NHGRI-Related News Archive

2016

December 19, 2016: New Study Identifies Which Physical Features Are Best Indicators of Down Syndrome in Diverse PopulationsFrom Children's National Health System: Physical features vary in patients with Down syndrome across diverse populations, according to a large international study published in the January 2017 issue of the American Journal of Medical Genetics. The study, led by the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, used an objective digital facial analysis technology developed by the Sheikh Zayed Institute for Pediatric Surgical Innovation at Children's National Health System to identify the most relevant facial features characteristic in Down syndrome in diverse populations from 12 countries. This NHGRI study is the first to compare and contrast Down syndrome across diverse populations.

December 13, 2016: DNANexus & TCGA: Reanalyzing the World's Largest Pan-Cancer Initiative DatasetFrom DNA Nexus: The Cancer Genome Atlas (TCGA), a joint effort between the National Cancer Institute (NCI) and the National Human Genome Research Institute (NHGRI), was established in 2006 to create a detailed catalog of genetic mutations responsible for cancer using next-generation sequencing. Over the years, TCGA collaborators have generated over 2.5 petabytes of data collected from nearly 11,000 patients, describing 34 different tumor types (including 10 rare cancers) based on paired tumor and normal tissue sets. "In addition, mutation calling for TCGA samples was primarily done for individual tumor types, with projects using different mutation callers or different versions of the callers, meaning the data wasn't uniform," said Carolyn Hutter, PhD, Program Director, Division of Genomic Medicine at the NHGRI. "We now believe the best way to do analysis is to have a uniform set of calls generated by multiple mutation callers, with quality control and filtering, across multiple cancer types. That's why the TCGA team decided to go back and recall the over 10,000 exomes in TCGA and produce this multi-caller somatic mutation dataset."

December 7, 2016: Scientists can now better diagnose diseases with multiple genetic causesFrom Baylor College of Medicine: Scientists at Baylor College of Medicine, Baylor Genetics, the University of Texas Health Science Center at Houston and Texas Children's Hospital are combining descriptions of patients' clinical features with their complex genetic information in a unified analysis to obtain more precise diagnoses of complex diseases, particularly those that involve more than one gene causing the condition. The researchers anticipate that improved clinical and genetic diagnoses could lead to patients receiving more effective treatments and families benefiting from needed counseling. The study, funded in part by the National Human Genome Research Institute, was published in the New England Journal of Medicine.

November 21, 2016: NIAID-Supported Scientists Sequence, Explore the Genome of the River Blindness ParasiteFrom National Institute of Allergy and Infectious Diseases:Scientists have sequenced the genome of the parasitic worm responsible for causing onchocerciasis-an eye and skin infection more commonly known as river blindness. Through their work, researchers have gained insight into the workings of the parasite and identified proteins that potentially could be targeted with existing drugs or provide areas for developing new treatments. The research, which is described in a pair of papers published this week in Nature Microbiology, was conducted in part by scientists employed or supported by the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health. Additional funding for one of the studies was provided in part by NIH's National Human Genome Research Institute.

November 15, 2016: Researchers develop novel system for cataloging cancer gene variantsFrom Baylor College of Medicine: The discovery of variations in genes in tumor samples has been critical to the understanding of how cancer develops and spreads, and how to effectively treat it. Now, a multi-institutional group of researchers from the National Human Genome Research Institute-supported Clinical Genome Resource, known as ClinGen, including researchers from Baylor College of Medicine and Texas Children's Hospital, have developed a standard way to catalog gene mutations in cancers in order to enhance the use of the information in research and clinical practice. The result is the minimal variant level data, or MVLD, a uniform cataloging system that presents a standard way for researchers everywhere to refer to relevant data and information about each variant found in cancer studies. A paper published online in describes the cataloging system.

November 15, 2016: Genomic approaches can provide answers to undiagnosed primary immunodeficiency diseasesFrom Baylor College of Medicine: An extensive international team of physician researchers published on a comprehensive and unbiased genomic study which has led to the identification of disease-causing gene variants in 40 percent of previously undiagnosed patients with primary immunodeficiency diseases (PIDDs). The study integrates genomics to clinical care and has led to changes in clinical diagnosis and management of PIDDS. The work was supported in part by the National Human Genome Research Institute.

November 15, 2016: Simple genetic test shows promise for better outcomes in heart stent patientsFrom the University of Florida Health: A quick, precise genetic test can significantly reduce the risk of cardiovascular events by helping to identify more effective medication for some heart patients, a group led by University of Florida Health researchers has found. The test identifies a genetic deficiency that affects the body's ability to activate clopidogrel, a common anti-clotting drug given after a coronary artery stent is inserted. The current research was organized through a collaborative genomic medicine network funded by the NIH through NHGRI and known as Implementing Genomics in Practice, or IGNITE.

November 9, 2016: Will Unanticipated Genetic Mutations Lead to Subsequent Disease?From Brigham and Women's Hospital: A study published Nov. 9 in the journal Science Translational Medicine is the first to show that mutations in certain cancer and cardiovascular genes put individuals at an increased risk for dominantly inherited, actionable conditions, regardless of family medical history. The study, carried out in two separate populations of African-Americans and European-Americans, finds that individuals carrying these mutations are at higher risk for developing one of these cancer or cardiac syndromes, respectively. The new work, led by Robert C. Green, M.D., MPH, of Brigham and Women's Hospital, Broad Institute and Harvard Medical School, has important implications for the use of genomic sequencing as a future clinical screening tool. The work was supported in part by the National Human Genome Research Institute.

November 3, 2016: New TSRI Study Suggests Ebola Can Adapt to Better Target Human CellsFrom The Scripps Research Institute: A new study co-led by scientists at The Scripps Research Institute (TSRI) suggests that Ebola virus gained a genetic mutation during the 2013-16 epidemic that appears to have helped it better target human cells. The research, published November 3, 2016 in the journal Cell, found that the version of Ebola virus carrying the mutation, called GP-A82V, emerged early in the epidemic before Ebola virus cases began increasing exponentially. Overall, the scientists estimate that the GP-A82V version of Ebola virus caused about 90 percent of infections in the recent outbreak. The study was supported in part by the National Human Genome Research Institute.

October 27, 2016: Mouse Tests Aim to Show How Genes and Environment Join Forces to Cause DiseaseFrom Johns Hopkins University: When researchers try to uncover the cause of disease, they commonly start with two questions: Did a quirk in the patient's genes open the door to illness? Did exposure to environmental factors play havoc with the patient's health? Very often, both troublemakers are at least partly to blame. To provide the most effective treatment, doctors need to know as much as possible about how these partners in sickness and poor health work together. Scientists from Johns Hopkins University and Texas A&M University have launched an ambitious new effort to gather such knowledge, with support from a $5.3 million National Institutes of Health grant. The team's goal is to learn at a fundamental level how genes and environmental factors interact to cause human disease. Two NIH units-the National Human Genome Research Institute and the National Institute of Environmental Health Sciences-will provide the funding over a five-year period.

October 17, 2016: NIH Scientists Uncover Genetic Explanation for Frustrating SyndromeFrom the National Institute of Allergy and Infections Diseases: Scientists at the National Institutes of Health have identified a genetic explanation for a syndrome characterized by multiple frustrating and difficult-to-treat symptoms, including dizziness and lightheadedness, skin flushing and itching, gastrointestinal complaints, chronic pain, and bone and joint problems. Some people who experience these diverse symptoms have elevated levels of tryptase-a protein in the blood often associated with allergic reactions. Multiple copies of the alpha tryptase gene drive these tryptase elevations and may contribute to the symptoms, according to a new study led by investigators at the National Instiute of Allergy and Infectious Diseases (NIAID). The National Human Genome Research Institute also provided funding for this study.

October 13, 2016: 23andMe, NIH Work to Reduce Health Research Disparities Among African AmericansFrom 23andMe: 23andMe, Inc., the leading personal genetics company, today announced a new grant from the National Institutes of Health (NIH), for the creation of a genetic resource for health research in African Americans that could improve the understanding of diseases in minority populations. The $1.7 million grant, issued from the National Human Genome Research Institute, will go toward leveraging 23andMe's data on more than one million customers who have consented to participate in research, creating an African American sequencing panel to be used as a reference dataset for health research. The de-identified genetic data will be made available to other health researchers at institutions around the world.

October 6, 2016: Reactome announces annotation and release of 10,000th human proteinFrom the Ontario Institute for Cancer Research (OICR):. The European Bioinformatics Institute (EMBL-EBI), the New York University School of Medicine and the Ontario Institute for Cancer Research (OICR) today announced a major milestone in the Reactome project: the annotation and release of its 10,000th human protein, making it the most comprehensive open access pathway knowledgebase available to the scientific community. The Reactome project is supported by NHGRI under the Computational Genomics and Data Science Program.

September 22, 2016: Inflammatory Autoimmune Disease Research at Georgia Tech awarded $2.3 Million NIH GrantFrom Georgia Tech: The lab of Greg Gibson at the Georgia Institute of Technology has been awarded a grant of $2.3 million to study the subtle genetic underpinnings of autoimmune-related diseases by taking a computational approach. The National Institutes of Health made the award as part of an $11.1 million total investment in research funds slated for five institutions, including Georgia Tech. The researchers' work could increase understanding of the causes of diabetes, Crohn's disease, rheumatoid arthritis, forms of heart disease, and more afflictions where inflammation is at issue, and where there may be a connection to autoimmunity. Funding comes from the National Human Genome Research Institute's Non-Coding Variants Program and the National Cancer Institute.

September 22, 2016: Drug development: Through the barrier From Nature:A metabolic physician at the University of Cambridge, UK, obtains a cutting-edge treatment from the United States - glucocerebrosidase enzyme purified from a human placenta - and administered it to his patient by intravenous infusion. This was the first UK use of enzyme-replacement therapy to treat Gaucher's disease, and the result was dramatic. Within months, the patient was no longer dependent on either blood transfusions or the wheelchair. "He never looked back, and he's still alive today," Cox says. Without it, "he would have been dead from bleeding or some complication a long time ago. The advent of enzyme-replacement therapy in the early 1990s revolutionized the treatment of Gaucher's disease. It also led to a new era of drug therapies for other lysosomal storage disorders (LSDs), a group of around 50 genetic conditions that compromise the body's ability to break down specific molecules, which then build up to create severe health problems. Dr. Ellen Sidransky, senior investigator with NHGRI's Medical Genomics Branch and an expert in Gaucher disease, is consulted and comments on the research in this article from Nature.

September 22, 2016: Coriell Institute Wins NIH AwardFrom Coriell Institute: Coriell Institute for Medical Research has won a $4.25M grant from the National Human Genome Research Institute. The five-year award supports the NHGRI Sample Repository for Human Genetic Research, a powerful collection of high-quality cell lines and DNA housed at Coriell and distributed to the global research community. The NHGRI Sample Repository includes the samples used by the International HapMap and 1000 Genomes projects, which have made significant contributions to the scientific and medical fields. Samples are accessible through the Coriell Institute and have genotype and sequence data. Donors gave broad consent for use of the samples, therefore no identifying or phenotypic information is available.

September 15, 2016: Distinct neurological syndromes can be the result of variations in gene ATAD3AFrom Baylor College of Medicine: A team of scientists from a number of institutions around the world, including Baylor College of Medicine, discovered that rare neurological syndromes for which there was no cause can be the result of variations in the gene ATAD3A. The study, which appears in the September 15 issue of American Journal of Human Genetics, sheds light on the causes of these diseases and opens the possibility for developing better diagnostic tools and potential treatments in the future. The research was funded in part by the National Human Genome Research Institute.

September 14, 2016: Genes essential to life are enriched for human disease genes, large-scale mouse phenotyping study showsFrom The Jackson Laboratory: Roughly a third of all genes in the mammalian genome are essential for life. A new article in Nature, from an international, multi-institutional research team including The Jackson Laboratory (JAX), describes the large-scale discovery of those genes and how it will impact understanding of mammalian development and human disease. The research was funded in part by the National Human Genome Research Institute.

September 12, 2016: New Studies Double Number of Known Sites in Genome Linked to High Blood PressureFrom Johns Hopkins Medicine: Several large international groups of researchers report data that more than doubles the number of sites in the human genome tied to blood pressure regulation. In one of the studies, Johns Hopkins University scientists in collaboration with many other groups, found unexpected hints that biochemical signals controlling blood pressure may spring from within cells that line blood vessels themselves. Another surprising finding from the study was that many of the new sites identified were near genes that are active in cells that line the inside of blood vessels, suggesting those cells are somehow involved directly in blood pressure control. The study, wich appears in the Sept. 12 journal Nature Genetics, was funded in part by the by the National Human Genome Research Institute.

August 17, 2016: Largest collection of human exome sequence data yields unprecedented tool for diagnosing rare diseaseFrom Broad Institute: Based on the largest resource of its kind, members of the Exome Aggregation Consortium (ExAC) led by scientists at the Broad Institute of MIT and Harvard report scientific findings from data on the exome sequences (protein-coding portions of the genome) from 60,706 people from diverse ethnic backgrounds. Containing over 10 million DNA variants - many very rare and most identified for the first time - the ExAC dataset is a freely available, high-resolution catalog of human genetic variation that has already made a major impact on clinical research and diagnosis of rare genetic diseases. Featured in the August 18 issue of Nature, analysis of the data reveals properties of genetic variation undetectable in smaller data sets.? The study was funded in part by the National Human Genome Research Institute.

August 4, 2016: Researchers flag hundreds of new genes that could contribute to autismFrom Princeton University: Investigators eager to uncover the genetic basis of autism could now have hundreds of promising new leads thanks to a study by Princeton University and Simons Foundation researchers. In the first effort of its kind, the research team developed a machine-learning program that scoured the whole human genome to predict which genes may contribute to autism spectrum disorder (ASD). The results of the program's analyses - a rogue's gallery of 2,500 candidate genes - vastly expand on the 65 autism-risk genes currently known. Researchers have recently estimated that 400 to 1,000 genes underpin the complex neurodevelopmental disorder. The researchers have made their results available in the August 1st online edition of the journal Nature Neuroscience. The study was funded in part by the National Human Genome Research Institute.

August 1, 2016: Tapping crowd-sourced data unearths a trove of depression genesFrom the National Institute of Mental Health: Scientists have discovered 15 genome sites - the first ever - linked to depression in people of European ancestry. Many of these regions of depression-linked genetic variation turn out to be involved in regulating gene expression and the birth of new neurons in the developing brain. However, the researchers did not have to sequence anyone's genes! Instead, they analyzed data already shared by people who had purchased their own genetic profiles via an online service and elected to participate in its research option. This made it possible to leverage the statistical power of a huge sample size to detect weak genetic signals associated with a diagnosis likely traceable to multiple underlying illness processes. This novel use of crowd-sourced data was confirmed with results from traditional genetics approaches in the study, funded in part by the National Human Genome Research Institute.

July 22, 2016:Vaccine Strategy Induces Antibodies that Can Target Multiple Influenza VirusesFrom the National Institute of Allergy and Infectious Diseases: Scientists have identified three types of vaccine-induced antibodies that can neutralize diverse strains of influenza virus that infect humans. The discovery will help guide development of a universal influenza vaccine, according to investigators at the National Institute of Allergy and Infectious Diseases (NIAID), and the National Human Genome Research Institute (NHGRI), both part of the National Institutes of Health (NIH), and collaborators who conducted the research. The findings appear in the July 21st online edition of Cell.

July 14, 2016: How Will Genomics Enter Day-to-day Medicine?From the Massachusetts Institute of Technology: Scientists are learning that the state of the microbiome can have an impact on human health, with the risk for everything from autoimmune disease to certain cancers being linked to the diversity and wellbeing of the trillions of microbes living in and on the body. In work published in this week's Nature, Eric Alm and Ilana Brito from MIT and the Broad Institute of MIT and Harvard and their colleagues took a deep look at the microbiomes in developing world populations to study how culture can influence their makeup. The research was funded in part by NHGRI.

July 5, 2016: How Will Genomics Enter Day-to-day Medicine?From Children's Hospital of Philadelphia: A quiet transformation has been brewing in medicine, as large-scale DNA results become increasingly available to patients and healthcare providers. Amid a cascade of data, physicians, counselors and families are sorting out how to better understand and use this information in making healthcare decisions. National experts who have gathered in Clinical Genetics Think Tank meetings at two large pediatric hospitals recently issued their first recommendations for integrating genomics into clinical practice. The recommendations appeared online May 12, 2016, in Genetics in Medicine. The research was supported, in part, by the National Human Genome Research Institute.

June 23, 2016: Human brain houses diverse populations of neurons, new research showsFrom University of California at San Diego: A team of researchers has developed the first scalable method to identify different subtypes of neurons in the human brain. The research lays the groundwork for "mapping" the gene activity in the human brain and could help provide a better understanding of brain functions and disorders, including Alzheimer's, Parkinson's, schizophrenia and depression. By isolating and analyzing the nuclei of individual human brain cells, researchers identified 16 neuronal subtypes in the cerebral cortex-the brain's outer layer of neural tissue responsible for cognitive functions including memory, attention and decision making. The team, led by researchers at the University of California San Diego, The Scripps Research Institute (TSRI) and Illumina, published their findings in the June 24 online issue of the journal Science. The study used single cell analysis technology originally developed with support from a Common Fund HMP Technology Development grant administered by NHGRI.

June 16, 2016: UMN study to establish legal framework for genomic medicineFrom University of Minnesota: The National Institutes of Health (NIH) has awarded the first-ever grant dedicated to laying the policy groundwork needed to translate genomic medicine into clinical application. The project - LawSeqSM - will convene legal, ethics and scientific experts from across the country to analyze what the state of genomic law is and create much-needed guidance on what it should be. NIH has declared the adoption of genomic medicine by clinicians to be a top priority to improve both individual and public health. The federal Precision Medicine Initiative (PMI), announced by President Obama and currently being launched, aims to use genomics and other analyses to accelerate development of more powerful and tailored treatments for cancer and other diseases. Yet U.S. federal and state genomics law is unclear and poorly understood, presenting a major obstacle to progress. NHGRI funds LawSeqSM.

June 14, 2016: Supercomputer changing genetic medicine in AfricaFrom University of Illinois at Urbana-Champaign: The National Center for Supercomputing Applications at the University of Illinois at Urbana-Champaign is helping change the way genetic medicine is researched and practiced in Africa. Members of the Blue Waters team recently made it possible to discover genomic variants in over 300 deeply sequenced human samples to help construct a genotyping chip specific for African populations. The research is part of the H3Africa project, funded in part by NHGRI.

June 13, 2016: Probing proteins' 3-D structures suggests existing drugs may work for many cancersFrom Washington University School of Medicine in St. Louis: Examining databases of proteins' 3-D shapes, scientists at Washington University School of Medicine in St. Louis have identified more than 850 DNA mutations that appear to be linked to cancer. The information may expand the number of cancer patients who can benefit from existing drugs. The study, published June 13 in Nature Genetics, detailed a list of the mutations and associated drugs that may work against them. The researchers included drugs already approved for use in patients by the Food and Drug Administration (FDA) as well as drugs being evaluated in clinical trials and in preclinical studies. The research was funded in part by NHGRI.

June 2, 2016: A massive approach to finding what's "real" in genome-wide association dataFrom Broad Institute: What could we learn if we probed the subtle effects of thousands of DNA variations on gene expression, all at once? Two recent NHGRI-funded studies, both of which were published in the journal Cell, hint at how an assay called the massively parallel reporter assay (MPRA) could help us get there. Genome-wide association studies (GWAS) have been a boon for geneticists by revealing thousands of genetic variants associated with human disease. At the same time, GWAS are the bane of geneticists because they reveal thousands of genetic variants associated with human disease.

May 26, 2016: Metagenomics Pathogen Detection Tool Could Change How Infectious Diseases Are DiagnosedFrom the University of Utah: Scientists at the University of Utah and their colleagues have developed a new software called Taxonomer that improves the accuracy and speed of detecting pathogens, which may help in diagnosing infectious diseases. In a report in the journal Genome Biology, the researchers showed Taxonomer could analyze the sequences of all nucleic acids in a clinical specimen (DNA and RNA) and detect disease-causing pathogens, as well as profile a patient's gene activity, in minutes.

May 20, 2016: OU Center Examines How Genomic Information Impacts Medical Care of Native American CommunitiesFrom the University of Oklahoma: A University of Oklahoma Center on American Indian and Alaska Native Genomic Research will examine the impact of genomic information on American Indian and Alaska Native communities and health care systems. The funding for this study - provided by NHGRI's Centers of Excellence in Ethical, Legal and Social Implications Research (CEER) program - will allow the OU research team will collaborate with the Cheyenne River Sioux tribe, the Chickasaw Nation and Southcentral Foundation in Anchorage, Alaska, to study knowledge and attitudes about genomics.

May 19, 2016: New center to study genomic privacy concernsFrom Vanderbilt: Researchers at Vanderbilt University School of Medicine have received a four-year, $4-million grant from the National Institutes of Health (NIH) to establish a new center for the study of privacy concerns associated with the use of genomic information, the NIH announced this week. The Vanderbilt Center for Genetic Privacy and Identity in Community Settings will examine the likelihood that lapses in protecting genomic information allow people to be identified, how people perceive such risks and how effective legal and policy efforts are in reducing them. NHGRI funds new CEER through the Ethical, Legal and Social Implications Research Program.

May 18, 2016: NIH Names Johns Hopkins Berman Institute a Center of Excellence For Bioethics Research on Genomics and Infectious DiseaseFrom Johns Hopkins: The National Human Genome Research Institute of the National Institutes of Health (NIH) has awarded the Johns Hopkins Berman Institute of Bioethics a "Center of Excellence" grant to study the ethical, legal and social implications (ELSI) of applying genomics to research on, and the prevention and treatment of, infectious disease. This builds on three years of work of an exploratory Center of Excellence in ELSI Research(CEER) at the Berman Institute, the first such project to focus attention on genomic ELSI issues in the context of infectious disease.

May 10, 2016: TSRI Team Streamlines Biomedical Research by Making Genetic Data Easier to SearchFrom Scripps Research Institute: A team of scientists at The Scripps Research Institute (TSRI) is expanding web services to make biomedical research more efficient. With their free, public projects, MyGene.info and MyVariant.info, researchers around the world have a faster way to spot new connections between genes and disease. Wu and TSRI Associate Professor Andrew Su co-led a new study published in the journal Genome Biology reporting on progress in setting up these services and the positive response from users so far. The research was funded in part by NHGRI through NIH's Big Data 2 Knowledge (BD2K) Initiative.

May 9, 2016: International Collaboration Leads to Clues About Rare CancerFrom the University of Michigan: Researchers from across the globe have joined together to improve understanding about one of the most rare - and lethal - types of cancer. Teams from 39 institutions in Europe, North America, South America and Australia collected and analyzed 91 samples of adrenocortical carcinoma. They performed a comprehensive genomic analysis as part of The Cancer Genome Atlas (TCGA) Research Network. TCGA is a joint project of the National Cancer Institute and the National Human Genome Research Institute of the National Institutes of Health.

May 6, 2016: Deciphering chromatin: Many marks, millions of histones at a timeFrom the Broad Institute: A new high-resolution technique for reading combinations of chemical flags in the epigenome could help uncover new rules underlying cell fate and provide important clues for understanding diseases like cancer. The research was partially supported by National Human Genome Research Institute.

April 28, 2016: UC San Diego bioengineers create first online search engine for functional genomics dataFrom University of California San Diego: University of California San Diego bioengineers have created what they believe to be the first online search engine for functional genomics data. This work from the Sheng Zhong bioengineering lab at UC San Diego was just published online by the journal Nucleic Acids Research. This new search engine, called GeNemo, addresses a pressing challenge: effectively searching functional genomic data from online data repositories. Funding for this work was provided in part by the National Human Genome Research Institute.

April 27, 2016: MicroRNA Pathway Could Lead to New Avenues for Leukemia TreatmentFrom University of Cincinnati: Cancer researchers at the University of Cincinnati have found a particular signaling route in microRNA (miR-22) that could lead to targets for acute myeloid leukemia, the most common type of fast-growing cancer of the blood and bone marrow.These findings are being published in the April 26 issue of the online journal Nature Communications. The research was funded in part by the Intramural Research Program of National Human Genome Research Institute.

April 7, 2016: Rare DNA will have nowhere to hideFrom Rice University: Rice University bioengineer David Zhang recognizes the difficulty of finding specific sequences of DNA in a tiny sample of blood that holds as many as 100 million billion nucleotides, the molecular units that, strung together, make up the genetic code. His ideas for improving the odds are great enough for the National Institutes of Health (NIH) to invest in them. He has been awarded a pair of prestigious NIH R01 grants - one of which is from the National Human Genome Research Institute - to develop novel therapeutic tools . The grant will allow his lab at Rice's BioScience Research Collaborative to develop probes that help next-generation sequencing (NGS) find and profile disease-causing DNA sequence variants by removing the vast majority of healthy sequences from view.

April 4, 2016: Single-gene mutations account for only 2 percent of cases of severely elevated cholesterolFrom Massachusetts General Hospital: A study from an international research team finds that familial hypercholesterolemia (FH) - a genetic condition that causes greatly elevated levels of low-density lipoprotein (LDL) cholesterol throughout life - accounts for less than two percent of severely elevated LDL in the general population. But the team also found that the risk of coronary artery disease is significantly higher in individuals with FH than in people with similarly elevated LDL levels who do not have these mutations. The report is receiving advance online publication in the Journal of the American College of Cardiology to coincide with a presentation at the American College of Cardiology's 65th Annual Scientific Session. The work was supported in part by the National Human Genome Research Institute.

March 25, 2016: Unique Repertoires of DNA Binding Activities [BWH Clinical & Research News Blog]From Brigham and Women's Hospital: Mitochondrial diseases - which affect 1 in 5,000 people - encompass a spectrum of disorders with an array of symptoms. Many patients with a mitochondrial disease experience neurological symptoms, including intellectual disability, childhood epilepsy and autism spectrum disorder, but why dysfunctional mitochondria - the powerhouses of cells -lead to these sorts of symptoms has been unclear.In a paper published on March 31 in Cell Reports, BWH investigators shed light on what may be the root cause of these neurological symptoms by tracing the development of interneurons. NHGRI helped fund the research.

March 7, 2016: Genes in spotted gar could boost biomedical use of zebrafishFrom University of Oregon: A primitive and slowly evolving fish, the spotted gar, is so much like zebrafish and humans that it can serve as a bridge species capable of leading to more powerful biomedical research on human diseases, say UO researchers. In a comprehensive, international research effort, led by the UO in collaboration with the Broad Institute at MIT and Harvard University, researchers sequenced the genome of the spotted gar - an ancient fish with hard, diamond-shaped scales and a long mouth filled with needle-like teeth. Their work is detailed in a paper published online by the journal Nature Genetics. The work was supported in part by the National Human Genome Research Institute.

March 1, 2016: Advisory committee to address framework for building medical information commonsFrom Baylor College of Medicine: Dr. Amy McGuire, director of the Center for Medical Ethics and Health Policy at Baylor College of Medicine, the Leon Jaworski Professor in Biomedical Ethics, and an expert in the ethics of genomic studies, was awarded a $2.2 million grant from the National Human Genome Research Institute to support the Building the Medical Information Commons: Participant Engagement and Policy project. The project seeks to develop an ethical and policy framework for building a medical information commons - a networked environment in which diverse sources of health, medical and genomic data on large populations become broadly available for research and clinical use.

February 29, 2016: Illuminating the broad spectrum of diseaseFrom the Broad Institute: In a paper published in Nature Biotechnology, researchers from the Broad Institute of MIT and Harvard and the Dana-Farber Cancer Institute describe a new method that dramatically simplifies an arduous experimental process in early drug discovery. Their method, called PRISM, uses a molecular barcoding system to test potential drug compounds on cancer and other cell lines at an unprecedented scale and speed. The system allows for pooling and testing of multiple cell lines simultaneously, and promises to accelerate the search for targeted therapies by better representing the broad genetic diversity of disease. NHGRI helped fund the research.

February 11, 2016: Neanderthal DNA has subtle but significant impact on human traitsFrom Vanderbilt University: Since 2010 scientists have known that people of Eurasian origin have inherited anywhere from 1 to 4 percent of their DNA from Neanderthals. The discovery spawned a number of hypotheses about the effects these genetic variants may have on the physical characteristics or behavior of modern humans, ranging from skin color to heightened allergies to fat metabolism...generating dozens of colorful headlines including "What your Neanderthal DNA is doing for you" and "Neanderthals are to blame for our allergies" and "Did Europeans Get Fat From Neanderthals?" Now, the first study that directly compares Neanderthal DNA in the genomes of a significant population of adults of European ancestry with their clinical records confirms that this archaic genetic legacy has a subtle but significant impact on modern human biology. The work was supported in part by grants from the National Human Genome Research Institute.

February 4, 2016: Individuals' medical histories predicted by their noncoding genomesFrom Stanford University Medicine:Researchers have found that analyzing mutations in regions of the genome that control genes can predict medical conditions such as hypertension, narcolepsy and heart problems.Identifying mutations in the control switches of genes can be a surprisingly accurate way to predict a person's medical history. The work was supported in part by grants from the National Human Genome Research Institute.

January 29, 2016: Could Blood Pressure Drugs Have a Role in Alzheimer's Disease Treatment?From Georgetown University Medical Center: In laboratory neuronal cultures, an FDA-approved drug used to treat high blood pressure reduced cell damage often linked to Alzheimer's disease, say researchers at Georgetown University Medical Center (GUMC) and the National Institutes of Health. Published online in the Feb. 28 issue of the journal Alzheimer's Research and Therapy, the researchers say their work provides information supporting the potential effect of the drug candesartan - as well as other Angiotensin receptor blockers for the early treatment of Alzheimer's disease. The work was supported by grants from the National Institutes of Health including the National Human Genome Research Institute and the National Institute of Mental Health.

January 28, 2016: Broad genetic testing for childhood cancer patients can pinpoint cancer causes and identify potential treatmentsFrom Baylor College of Medicine: In a study led by researchers from Baylor College of Medicine and Texas Children's Cancer Center, combined whole exome tumor and blood sequencing in pediatric cancer patients revealed unexpected findings, including mutations in genes not previously associated with the specific type of cancer that had been diagnosed, pointing toward the usefulness of broad-based testing of both tumor and blood samples for children diagnosed with solid tumors. The study, which appears in the current issue of JAMA Oncology, is part of the ongoing Baylor College of Medicine Advancing Sequencing in Childhood Cancer Care (BASIC3) project funded through a $6.6 million grant from the National Human Genome Research Institute and the National Cancer Institute.

January 27, 2016: Schizophrenia's strongest known genetic risk deconstructedFrom the National Institute of Mental Health: Versions of a gene linked to schizophrenia may trigger runaway pruning of the teenage brain's still-maturing communications infrastructure, NIH-funded researchers have discovered. People with the illness show fewer such connections between neurons, or synapses. The gene switched on more in people with the suspect versions, who faced a higher risk of developing the disorder, characterized by hallucinations, delusions and impaired thinking and emotions. This research was funded in part by a grant from the National Human Genome Research Institute.

January 5, 2016: Vanderbilt study raises questions about reporting incidental genetic findingsFrom Vanderbilt University: A genetic test that suggests a patient may be at increased risk for potentially fatal heart rhythms is very often not as ominous as it sounds. That's the take-home message from a study in the current Journal of the American Medical Association led by researchers at Vanderbilt University Medical Center. The study of 2,022 patients identified 63 who had genetic variations considered to be "potentially pathogenic" - capable of producing arrhythmias. Yet their electrocardiograms (ECGs) were no different from those who did not carry the "disease genes."
The research was funded in part through the federally funded Electronic Medical Records and Genomics (eMERGE) network, which was initiated and funded with National Human Genome Research Institute (NHGRI) grants. NHGRI program staff participated with eMERGE investigators in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication and are accordingly included as authors.

2015

December 23, 2015: Genome misfolding unearthed as new path to cancerFrom Broad Institute: In a landmark study, researchers from the Broad Institute and Massachusetts General Hospital reveal a completely new biological mechanism that underlies cancer. By studying brain tumors that carry mutations in the isocitrate dehydrogenase (IDH) genes, the team uncovered some unusual changes in the instructions for how the genome folds up on itself. The findings, which point to a general process that likely also drives other forms of cancer, appear in the December 23rd advance online issue of the journal Nature. The study combed through vast amounts of data from recent cancer genome projects, including The Cancer Genome Atlas (TCGA). The research was partly funded by an NHGRI ENCODE Project grant.

December 21, 2015: International Study Reveals New Genetic Clues to Age-Related Macular Degeneration (AMD)From the National Eye Institute: The International AMD Genomics Consortium has collected and analyzed genetic data from over 43,000 people to systematically identify common and rare variations in genetic coding - called variants -associated with AMD, a leading cause of vision loss among people age 50 and older. The findings may help improve our understanding of the biological processes that lead to AMD and identify new therapeutic targets for potential drug development. The study was funded in part by grants from the National Human Genome Research Institute.

December 14, 2015: Stunning diversity of gut bacteria uncovered by new approach to gene sequencing devised at StanfordFrom Stanford University: A collaboration between computer scientists and geneticists at Stanford University has produced a novel technique for mapping the diversity of bacteria living in the human gut. The new approach revealed a far more diverse community than the researchers had anticipated. "The bacteria are genetically much more heterogeneous than we thought," said Michael Snyder, Ph.D., professor and chair of genetics.Any two humans typically differ by about 1 in 1,000 DNA bases, whereas bacteria of the same species may differ by as many as 250 in 1,000, Snyder said. "I don't think people realized just how much diversity there was. The complexity we found was astounding," he said. A paper describing their work was published in the online Dec. 14 issue of Nature Biotechnology. The study was funded in part by NHGRI.

December 14, 2015: Study uncovers hard-to-detect cancer mutationsFrom Washington University in St. Louis: New research shows that current approaches to genome analysis systematically miss detecting a certain type of complex mutation in cancer patients' tumors. Further, a significant percentage of these complex mutations are found in well-known cancer genes that could be targeted by existing drugs, potentially expanding the number of cancer patients who may benefit. The study, from Washington University School of Medicine in St. Louis, appears Dec. 14 in the journal Nature Medicine. The research was supported in part by the National Human Genome Research Institute.

November 17, 2015: Drug may delay, prevent blindness for millionsFrom the Marshfield Clinic: A drug already used safely to treat Parkinson's disease, restless leg syndrome and other movement disorders also could delay or prevent the most common cause of blindness affecting more than 9 million older Americans - age-related macular degeneration (AMD). Researchers have discovered that patients who take the drug L-DOPA are significantly less likely to develop AMD, and if they do get AMD it's at a significantly older age, according to study published online Nov. 4 in the American Journal of Medicine?. The study, Mining Retrospective Data for Virtual Prospective Drug Repurposing: L-DOPA and Age-related Macular Degeneration, was supported in part by the National Human Genome Research Institute.

November 10, 2015: Genome of Sézary syndrome points to potential treatment targetsFrom Baylor College of Medicine: A genomic analysis of 37 patients with Sézary syndrome, a rare form of T-cell lymphoma that affects the skin and causes large numbers of atypical T-lymphocytes (an immune system disease) to circulate, reveals mutations in genes that affect T-cell signaling and those that interfere with cell cycle checkpoints that govern cell division, said researchers from Baylor College of Medicine and The University of Texas MD Anderson Cancer Center in a report in the journal Nature Genetics. Funding for this work came, in part, from National Human Genome Research Institute (Grant 5U54HG003273).

November 9, 2015: GQT: Making the Most of Genomic Big DataFrom the USTAR Center for Genetic Discovery Blog: UCGD investigator Aaron Quinlan and his team have released GQT, a software tool for exploring and querying large data sets of thousands to millions of genomes. Since the first human genome was completed in 2003, sequenced genomes have accumulated at an exponential rate with scientists finishing 1,000 genomes by 2013 and 60,000 in 2015, a mere two years later. This astonishing growth in genome sequencing is predicted to continue. Over a million new human genome sequences are expected to arrive on the virtual desks of researchers by 2020. This massive data influx presents a big data challenge for genomics researchers. Computational tools that were designed to study genetic variation in one or a few genomes fall short when applied to cohorts of hundreds, thousands, and potentially millions of individuals. This work was published in the journal Nature Methods on November 9, 2015 and is supported by the National Human Genome Research Institute (NHGRI).

November 4, 2015: Analysis of genetic neurologic diseases identify genes that affect brain structure, functionFrom Baylor College of Medicine: In a study that appears in the journal Neuron, researchers led by those at Baylor College of Medicine and a large swath of Turkish medical professionals evaluated the genetics behind such brain disorders and malformations. They found variants of genes known to cause such problems and new mutations in genes not known to be involved before. Along with that, they identified structural deviations such as the duplications or deletions known as copy number variations in different chromosomes. The study was was supported in part by the National Human Genome Research Institute.

November 4, 2015: Kidney cancer's genomic drivers revealedFrom the Oregon Health and Science University: A massive search involving cancer researchers across the U.S. and Canada has revealed many of the altered genes and cell signaling pathways that drive a poorly understood form of kidney cancer, primary papillary renal cell carcinoma.The findings, published today in the New England Journal of Medicine, should help physicians better understand the clinical risks for people with papillary kidney tumors, which account for 15 percent of kidney cancer cases. The insights also point the way to new ideas for more effective therapies.

October 29, 2015: NIH researchers link single gene variation to obesityFrom Eunice Kennedy Shriver National Institute of Child Health and Human Development: According to a new study funded by the National Institutes of Health and published in the journal Cell Reports, a single variation in the gene for brain-derived neurotropic factor (BDNF) may influence obesity in children and adults. The study suggests that a less common version of the BDNF gene may predispose people to obesity by producing lower levels of BDNF protein, a regulator of appetite, in the brain. The authors propose that boosting BDNF protein levels may offer a therapeutic strategy for people with the genetic variation, which tends to occur more frequently in African Americans and Hispanics, than in non-Hispanic Caucasians. The study was funded in part by NHGRI.

October 27, 2015: A Newly-Discovered Tumor Suppressor Gene Affects Melanoma SurvivalFrom Weizmann Institute of Science: In research that appeard in the October 26 issue of Nature Genetics a team from the Weizmann Institute of Science has revealed one of the drivers of a particularly deadly subset of melanomas - one that is still seeing a rise in new cases. This gene is a newly identified member of a group of genes called tumor suppressor genes. It is mutated in some 5.4% of melanomas. its expression was found to be lost in over 30% of human melanomas; and this loss, according to the finding, was associated with reduced patient survival. This discovery might open new doors to understanding how this cancer grows and spreads, and it may lead in the future to new directions in treating this disease. NHGRI scientists contributed to the research.

October 13, 2015: Genomic analysis paves way for personalized treatment of invasive lobular carcinomaFrom the Autism Science Foundation (ASF): The ASF announced the launch of the Autism Sisters Project, a new initiative that will give unaffected sisters of individuals with autism the opportunity to take an active role in accelerating research into the "Female Protective Effect". The goal is to build a large genetic database that researchers can use to explore this phenomenon and discover how the protective factor can be harnessed to help people with autism of both sexes. The ASC is supported by a cooperative agreement grant to four lead sites funded by the National Institute of Mental Health (NIMH), with additional support from the National Human Genome Research Institute (NHGRI).

October 8, 2015: Genomic analysis paves way for personalized treatment of invasive lobular carcinomaFrom the UNC Lineberger Comprehensive Cancer Center: UNC Lineberger Comprehensive Cancer Center researchers helped lead an effort by The Cancer Genome Atlas Network of researchers to map the genetic drivers of invasive lobular carcinoma, the second most commonly diagnosed invasive form of breast cancer. They found that this cancer type may be at least three different diseases that differ in their microenvironmental features and outcomes. TCGA is a joint project of the National Cancer Institute and the National Human Genome Research Institute, both of the National Institutes of Health.

September 29, 2015: New Hope for Undiagnosed, Critically Ill Newborns at Rady Children'sFrom Rady Children's Hospital, San Diego: In his first week in office, newly recruited president and CEO of the Rady Pediatric Genomics and Systems Medicine Institute (RPGSMI), Stephen Kingsmore, M.D., D.Sc., will participate in a major announcement. Today in Genome Medicine, Dr. Kingsmore and a team of researchers report whole-genome sequencing for diagnosis in critically ill babies in 26 hours. Prior to this, the fastest genome-based diagnosis was 50 hours, a mark set in 2012. Cutting diagnosis time in half adds precious hours for critically ill infants with unknown conditions whose bodies are rapidly failing. The work was funded by a $6 million grant from the National Human Genome Research Institute.

September 29, 2015: Children's Mercy Researchers Achieve 26-Hour Rapid Whole-Genome Sequencing In Critically Ill InfantsFrom Children's Mercy, Kansas City: A study published today in Genome Medicine describes how researchers at Children's Mercy Kansas City cut in half the time needed for rapid whole-genome sequencing and genetic diagnosis in critically-ill infants, called STAT-Seq. Through a variety of enhancements, the Center for Pediatric Genomic Medicine at Children's Mercy completed the STAT-Seq test in 26 hours compared to 50 hours, improving on a turnaround time that was already the fastest available in the world. Children's Mercy is one of four pilot projects to explore newborn genomics through funding by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the National Human Genome Research Institute (NHGRI), both parts of the National Institutes of Health.

September 28, 2015: A new single-molecule tool to observe enzymes at workFrom University of Washington: A team of scientists at the University of Washington and the biotechnology company Illumina have created an innovative tool to directly detect the delicate, single-molecule interactions between DNA and enzymatic proteins. Their approach provides a new platform to view and record these nanoscale interactions in real time. As they report Sept. 28 in Nature Biotechnology, this tool should provide fast and reliable characterization of the different mechanisms cellular proteins use to bind to DNA strands - information that could shed new light on the atomic-scale interactions within our cells and help design new drug therapies against pathogens by targeting enzymes that interact with DNA. This discovery was made in the process of designing a nanopore system with which to sequence DNA, and the new capability can in turn be used to further improve the enzymes used in that DNA sequencing system. The research was funded by the Revolutionary Sequencing Technology Development Program - $1,000 Genome - administered by the National Human Genome Research Institute.

September 21, 2015: Consortium Awarded $12.4 Million to Study Genetic Heart ConditionFrom The Ohio State University: The Dilated Cardiomyopathy Consortium, led by Dr. Ray Hershberger at The Ohio State University Wexner Medical Center, has been awarded $12.4 million in grant funding by the National Heart Lung Blood Institute (NHLBI) and the National Human Genome Research Institute (NHGRI). The Consortium, composed of researchers at 11 clinical sites, will study the genetic basis of dilated cardiomyopathy (DCM) over the next five years. The study is called 'Precision Medicine for Dilated Cardiomyopathy in European and African Ancestry. DCM is a condition in which the heart muscle weakens and the left ventricle enlarges. It is the most common cause for patients needing a heart transplant and it is responsible for about one in three cases of heart failure.

September 4, 2015: Genetic landscape can impact treatment for children with rare, aggressive cancerFrom Geisinger Health System:Two Geisinger researchers, leading a large team of investigators, have been awarded more than $3.5 million as part of a national effort to better understand the genetic basis of disease and to tailor medical care to people based on their genetic makeup. Marc S. Williams, M.D., director of the Genomic Medicine Institute, and Marylyn D. Ritchie, Ph.D., director of biomedical and translational informatics, will spend the next four years combining DNA sequence information and health information in thousands of patients' electronic medical records to study two disorders: familial hypercholesterolemia and chronic rhinosinusitis. They will examine and test approaches to discussing familial hypercholesterolemia genomic sequencing results with patients and families, and also how family members communicate with one another. They also will look at the impact of the environment on chronic rhinosinusitis. The award from the National Institutes of Health was announced this week and is part of the Electronic Medical Records and Genomics (eMERGE) network administered by the National Human Genome Research Institute (NHGRI).

September 1, 2015: Genetic landscape can impact treatment for children with rare, aggressive cancerFrom University of Michigan Health System: For children with rare, aggressive and advanced cancer, precision medicine may help doctors determine their best treatment options, a new study finds. Using information from a patient's entire genome helped suggest personalized treatment options for nearly half of children with cancer, and led to specific treatment changes in a quarter of these patients, according to researchers at the University of Michigan Comprehensive Cancer Center and C.S. Mott Children's Hospital. The study includes sequencing the tumor's DNA and RNA as well as normal DNA from children and young adults with cancer that has relapsed or that is rare. Results from the first 102 patients enrolled are published in the September 1 issue of Journal of the American Medical Association. Funding for this study was provided in part by the National Institutes of Health Clinical Sequencing Exploratory Research (CSER) Consortium.

August 7, 2015:Scientists adopt new strategy to find Huntington's disease therapiesFrom the National Institute of Neurological Disorders and Stroke:Scientists searched the chromosomes of more than 4,000 Huntington's disease patients and found that DNA repair genes may determine when the neurological symptoms begin. The results may provide a guide for discovering new treatments for Huntington's disease and a roadmap for studying other neurological disorders. For this study, scientists employed a novel application of Genome-Wide Association Study analysis, a technique that scientists typically use to search for single letter changes to the DNA code on patients' chromosomes, which may increase or decrease their chances of having the disease. This work was supported in part by grants from the National Human Genome Research Institute.

August 3, 2015: Researchers awarded $14 million for two precision health projectsFrom Stanford School of Medicine:The National Institutes of Health has awarded the Stanford School of Medicine $14 million in funding for two projects that will advance the practice of precision health. The first grant is four-year, $10 million grant from the National Institute of General Medical Sciences (NIGMS) to expand their Pharmacogenomics Knowledgebase (PharmGKB). The second grant is a three-year, $4 million grant from the NIGMS and the National Human Genome Research Institute for the Clinical Pharmacogenetics Implementation Consortium (CPIC), which publishes clinical guidelines that teach healthcare providers how to use information about their patients' genetics to guide and optimize drug prescriptions.

July 23, 2015: Study: Glioma Tumor's Genetic Profile More Telling Than Physical AppearanceFrom University of Cincinnati: In a study published the June 10 issue of New England Journal of Medicine, researchers from the researchers from the Brain Tumor Center at the University of Cincinnati (UC) Neuroscience Institute and the UC Cancer Institute discovered that some glioma tumors that appeared to be "lower grade" contained a genetic characteristic that caused them to behave like the most aggressive, high-grade gliomas, also known as glioblastoma multiforme. The study was recently published by the The Cancer Genome Atlas (TCGA) network. TCGA is a joint project of the National Cancer Institute and the National Human Genome Research Institute of the National Institutes of Health.

July 22, 2015: Media Availability:Researchers Identify Promising Therapy for Rare Immune DisorderFrom the National Institute of Allergy and Infectious Diseases: Researchers from the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health, and the Cincinnati Children's Hospital Medical Center report on a promising therapy for people with LRBA deficiency, a rare immune disorder that lacks effective treatments and is caused by mutations in the LRBA gene. The researchers found that the drug abatacept, which is FDA-approved for treating rheumatoid arthritis, may be an effective long-term therapy for LRBA deficiency. Furthermore, the team has discovered that LRBA protein plays a role in limiting the activity of immune cells. This work was supported in part by grants from National Human Genome Research Institute.

June 18, 2015: Genomic discovery of skin cancer subtypes provides potential 'signpost' for drug targetsFrom MD Anderson Anderson Cancer Center:As part of The Cancer Genome Atlas (TCGA), researchers from the University of Texas MD Anderson Cancer Center identified four melanoma subtypes: BRAF, RAS, NF1 and Triple-WT, which were defined by presence or absence of mutations from analysis of samples obtained from 331 patients. The five-year study resulted from an international collaboration of over 300 researchers from more than five countries, including Australia, Germany and Canada. Results from the study were published in the June 18 issue of Cell. The TCGA is a joint project of the National Cancer Institute and the National Human Genome Research Institute of the National Institutes of Health.

June 15, 2015: Vulnerabilities in Genome's 'Dimmer Switches' Should Shed Light on Hundreds of Complex DiseasesFrom Johns Hopkins Medicine:Up to one-fifth of human DNA act as dimmer switches for nearby genes, but scientists have long been unable to identify precisely which mutations in these genetic control regions really matter in causing common diseases. Now, a decade of work at Johns Hopkins has yielded a computer formula that predicts with far more accuracy than current methods which mutations are likely to have the largest effect on the activity of the dimmer switches, suggesting new targets for diagnosis and treatment of many diseases. A summary of the research will be published online June 15 in the journal Nature Genetics. This work was supported in part by grants from National Human Genome Research Institute.

June 11, 2015:Reclassifying brain tumors with precisionFrom Emory University: A ground-breaking study that is part of The Cancer Genome Atlas (TCGA) Research Network will change the way patients with diffuse gliomas, a form of brain tumor, will be diagnosed and treated in the future. More than 300 researchers from 44 institutions contributed to a molecular analysis of the tumors. They found that molecular diagnostics are much more precise and reproducible than looking at tissue under a microscope for classification. This is a major step in starting to classify and treat brain tumors based on their genetic makeup rather than their microscopic appearance, which has been the traditional diagnostic approach for over 100 years. The findings are published on line in the New England Journal of Medicine. TCGA was launched by the National Cancer Institute (NCI) and the National Human Genome Research Institute (NHGRI) in 2006.

June 8, 2015:Stanford researchers suss out cancer mutations in genome's dark spotsFrom Stanford University:Geneticist Michael Snyder, Ph.D., and postdoctoral scholar Collin Melton, Ph.D., recently combined information from The Cancer Genome Atlas, a national effort to sequence and identify mutations in the genomes of many different types of cancers, with data from the national ENCODE Project, which serves as an encyclopedia of DNA functional regions, or elements. Their aim was to better understand the roles that mutations in regulatory regions may play in cancer development. Snyder and Melton found that fewer than one of every thousand mutations in each cancer type occurs in the coding region of a gene. In contrast, more than 30 percent of the mutations occur in regulatory regions. The study was published this morning in Nature Genetics. Both ENCODE and The Cancer Genome Atlas are research programs from NHGRI.

May 29, 2015: Single-cell analysis hits its strideFrom the Broad Institute: The Human Genome Project gave us an incredible foundation from which to understand our potential genetic repertoire. In order to understand the actual roles of particular genes in disease, however, it is not only critical to identify genes, but also to know in which cells the genes are expressed and when. The research was funded in part by NHGRI.

May 29, 2015:New platforms genetically barcode tens of thousands of cells at a timeFrom Harvard University: New platforms genetically barcode tens of thousands of cells at a time
John Franklin Enders University professor Matt Kirschner and Steven McCarroll, assistant professor of genetics at HMS, reported this week in separate papers that their labs have developed high-throughput techniques to quickly, easily and inexpensively give every cell in a sample a unique genetic barcode before it goes into the blender. The research was funded in part by NHGRI.

May 27, 2015: Congressional Action Needed to Optimize Regulation of Genomic TestsFrom University of Houston Law:The latest generation of genomic testing offers a chance for significant improvements in patient care, disease prevention and, possibly, even the cost-effectiveness of healthcare. However, Congress needs to act to incentivize the development of the massive data systems that doctors and regulators will need to make these tests safe and effective for patients, according to researchers. The Special Report by Barbara J. Evans, Ph.D., J.D. of the University of Houston Law Center, and Wylie Burke, M.D., Ph.D. and Gail P. Jarvik, M.D., Ph.D, both of the University of Washington School of Medicine, appears ahead of print in the May 27 online edition of the New England Journal of Medicine, the leading U.S. journal of original medical research and commentary.

May 13, 2015: Genome: Unlocking Life's Code Opens May 15 at the St. Louis Science CenterFrom the St. Louis Science Center: The first state-of-the-art exhibition about genomic science, Genome: Unlocking Life's Code opens May 15, 2015 at the Saint Louis Science Center. The exhibition is the result of a unique partnership of the Smithsonian Institution, NHGRI and the National Institutes of Health.

April 27, 2015: Study Demonstrates Potential of Rapid Whole-Genome Sequencing in Critically Ill InfantsFrom Children's Mercy Hospital, Kansas City: A study published in The Lancet Respiratory Medicine and presented at the annual Pediatric Academic Societies Meeting reveals the early results of the clinical usefulness of rapid whole-genome sequencing in neonatal and pediatric intensive care units (NICUs and PICUs). Children's Mercy Kansas City's STAT-Seq test helped diagnose a genetic disease in more than one half of 35 critically ill infants tested, compared to just nine percent with standard genetic tests. As a result of receiving a specific disease diagnosis, clinical care was refined in 62 percent of infants, including 19 percent who had a markedly favorable change in treatment, and palliative care was initiated in 33 percent. The results underscore the importance of the larger pilot project to explore newborn genomics, partially funded by the National Human Genome Research Institute (NHGRI).

April 15, 2015: Mathematical Technique Reveals DNA Patterns That Increase Accuracy of Ovarian Cancer PrognosisFrom the University of Utah: Nearly anyone touched by ovarian cancer will tell you: it's devastating. It's bad enough that cancer in almost 80 percent of patients reaches advanced stages before diagnosis, and that most patients are expected to die within five years. But just as painfully, roughly one quarter of women diagnosed have no warning that they are resistant to platinum-based chemotherapy, the main line of defense, nor that they will likely have 18 months to live. Now, University of Utah scientists have uncovered patterns of DNA anomalies that predict a woman's outcome significantly better than tumor stage. Published in the journal PLOS ONE, the patterns were discovered by using a new mathematical technique in the analysis of DNA profiles from the Cancer Genome Atlas, a national database containing data from hundreds of ovarian cancer patients.

March 9, 2015:The Cancer Genome Atlas (TCGA): The next stageFrom The Cancer Genome Atlas: The Cancer Genome Atlas (TCGA), the NIH research program that has helped set the standards for characterizing the genomic underpinnings of dozens of cancers on a large scale, is moving to its next phase. TCGA was launched by the National Cancer Institute (NCI) and the National Human Genome Research Institute (NHGRI) in 2006 as a pilot project to comprehensively characterize the genomic and molecular features of ovarian cancer and glioblastoma multiforme. The program grew to include samples from 11,000 patients across 33 tumor types and represents the largest tumor collection ever to be analyzed for key genomic and molecular characteristics.

March 6, 2015:Unregulated web marketing of genetic tests for personalized cancer care raises concerns in new studyFrom the Dana-Farber Cancer Institute: Websites that market personalized cancer care services often overemphasize their purported benefits and downplay their limitations, and many sites offer genetic tests whose value for guiding cancer treatment has not been shown to be clinically useful, according to a new study from Dana-Farber Cancer Institute. Internet marketing of cancer-related gene tests is unregulated. Therefore, there is wide variation in how these services are presented - posing a challenge for consumers and their physicians, the researchers reported in the March 5, 2015 issue of the Journal of the National Cancer Institute. NHGRI's genetic testing fact sheet was cited by the consumer health website HealthDay as a good resource for information on genetic testing.

March 4, 2015:Genetically speaking, mammals are more like their fathersFrom UNC at Chapel Hill: You might resemble or act more like your mother, but a novel research study from UNC School of Medicine researchers reveals that mammals are genetically more like their dads. Specifically, the research shows that although we inherit equal amounts of genetic mutations from our parents - the mutations that make us who we are instead of some other person - we actually "use" more of the DNA that we inherit from our dads. The National Human Genome Research Institute and the National Institute of Mental Health funded the creation of the UNC Center for Integrated Systems Genetics (CISGen), which contributed to the development and funding of proof of principle experiments for the Collaborative Cross to find genetic and environmental factors important in psychiatry.

February 18, 2015:Predicting Cancers' Cell of OriginFrom Brigham and Women's Hospital: A study led by researchers from Brigham and Women's Hospital suggests a new way to trace cancer back to its cell type of origin. By leveraging the epigenome maps produced by the Roadmap Epigenomics Program - a resource of data collected from over 100 cell types - the research team found that the unique genetic landscape of a particular tumor could be used to predict that tumor's cell type of origin. The study, which appears this week in Nature, provides new insights into the early events that shape a cancer, and could have important implications for the many cancer patients for whom the originating site of the cancer is unknown. NHGRI's mission is to fund and explore research in genomics - including epigenomics - that will support discovering the foundation of human health.

February 18, 2015:New Insights into 3D Genome Organization and Genetic VariabilityFrom the University of California San Diego:While genomics is the study of all of the genes in a cell or organism, epigenomics is the study of all the genomic add-ons and changes that influence gene expression but aren't encoded in the DNA sequence. A variety of new epigenomic information is now available in a collection of studies published Feb. 19 in Nature by the National Institutes of Health (NIH) Roadmap Epigenomics Program. This information provides a valuable baseline for future studies of the epigenome's role in human development and disease. NHGRI's mission is to fund and explore research in genomics - including epigenomics - that will support discovering the foundation of human health.

February 18, 2015:NIH-supported researchers map epigenome of more than 100 tissue and cell typesFrom the National Institutes of Health:Much like mapping the human genome laid the foundations for understanding the genetic basis of human health, new maps of the human epigenome may further unravel the complex links between DNA and disease. The epigenome is part of the machinery that helps direct how genes are turned off and on in different types of cells.Researchers supported by the National Institutes of Health Common Fund's Roadmap Epigenomics Program have mapped the epigenomes of more than 100 types of cells and tissues, providing new insight into which parts of the genome are used to make a particular type of cell. NHGRI's mission is to fund and explore research in genomics - including epigenomics - that will support discovering the foundation of human health.

February 17, 2015:DNA Sequencer the size of a mobile phoneFrom the University of California Santa Cruz: Investigators at the UC Santa Cruz Genomics Institute have optimized performance of a mobile-phone-sized MinIONTM DNA sequencer, marketed by Oxford Nanopore. Their work was reported in Nature Methods on February 16, 2015.The MinION device reads individual DNA strands base-by-base as they pass through a nanoscale pore (nanopore) under control of an applied voltage. This process is facilitated by an enzyme bound to the DNA. The study was supported by National Human Genome Research Institute (NHGRI).

February 13, 2015:Largest ever genome-wide study on body fat and BMI strengthen genetic links to obesityFrom the University of North Carolina School of Medicine: There are many reasons why two people with the same diets and exercise regimens can gain different amounts of weight and why fat becomes stored in different parts of their bodies. Now, an international collaboration of scientists, including several from the UNC School of Medicine and the UNC Gillings School of Global Public Health, has helped researchers home in on genetic reasons. Their findings were published in companion papers - genome-wide association studies - in the journal Nature.

January 29, 2015: Neutron Beams Reveal How Two Potential Pieces of Parkinson's Puzzle FitFrom NIST Center for Neutron Research: A team including scientists from the National Institute of Standards and Technology (NIST), NHGRI's Dr. Ellen Sidransky, have determined how two potentially key pieces of the Parkinson's puzzle fit together, in an effort to reveal how the still poorly understood illness develops and affects its victims.

January 28, 2015: Evolution of marine mammals to water life converges in some genesFrom Baylor College of Medicine: When marine mammals such as whales, dolphins, manatees and walruses moved from land to water, a series of physical abilities --- limbs adapted for swimming, less dense bones that make them more buoyant and a large store of oxygen relative to their body size - made it possible. Yet these animals made the transition from land to water millions of years apart. In a report that appears online in the journal Nature Genetics, an international consortium of researchers that includes those at Baylor College of Medicine looked at the genomes of these four marine mammals and compared them to their closest land kin. The genomes of the whale and dolphin were compared to that of the cow, the walrus to the dog and the manatee to the elephant. NHGRI helped fund the research.

January 21, 2015: USC neuroscientists lead global ENIGMA consortium to crack brain's genetic codeFrom University of Southern California:In the largest collaborative study of the brain to date, researchers from the Keck School of Medicine of the University of Southern California (USC) led a global consortium of 190 institutions to identify eight common genetic mutations that appear to age the brain an average of three years. The discovery could lead to targeted therapies and interventions for Alzheimer's disease, autism and other neurological conditions. An international team of roughly 300 scientists known as the Enhancing Neuro Imaging Genetics through Meta Analysis (ENIGMA) Network pooled brain scans and genetic data worldwide to pinpoint genes that enhance or break down key brain regions in people from 33 countries. This is the first high-profile study since the National Institutes of Health (NIH) launched its Big Data to Knowledge (BD2K) centers of excellence in 2014. BD2K involves all institutes at the NIH, including NHGRI.

January 16, 2015: Penn State and Geisinger announce new collaborative gene research project From Penn State University:Marylyn Ritchie, Ph.D., professor of biochemistry and molecular biology and director of the Center for Systems Genomics in the Huck Institutes of the Life Sciences at Penn State University, will lead a collaborative effort between Penn State and Geisinger Research to connect the genome data of 100,000 anonymous patients with their medical histories, in order to identify the genetic and environmental basis of human disease. This new program was developed to harness the data resources being generated through a large-scale DNA-sequencing project at Geisinger in collaboration with Regeneron Pharmaceuticals, where at least 100,000 Geisinger patients will be sequenced over the next five years. Dr. Ritchie is is the lead investigator in coordinating the genomic data in the eMERGE network, funded by the National Human Genome Research Institute (NHGRI).

January 7, 2015: NIH teams with industry to develop treatments for Niemann-Pick Type C diseaseFrom the National Institutes of Health: Researchers from the National Institutes of Health have entered into an agreement with biotechnology company Vtesse, Inc., of Gaithersburg, Maryland, to develop treatments for Niemann-Pick disease type C (NPC) and other lysosomal storage disorders. Lysosomal storage diseases, also known as lipid storage diseases, comprise about 50 rare inherited disorders that usually affect children. NHGRI scientists contributed to the research.

January 6, 2015: UMMS receives $6.1 M to develop model for predicting gene expression in human dendritic cellsFrom University of Massachusetts Medical School: Jeremy Luban, MD, and Manuel Garber, PhD, will be principal investigators on a three-year, $6.1 million grant to develop a model for predicting whether a given gene will be turned on or off under specific conditions. Funding for the grant comes from the recently launched Genomics of Gene Regulation (GGR) program at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health. In total, $28 million in new grants aimed at deciphering the language of gene expression were awarded.

2014

December 8, 2014: Genetic errors linked to aging underlie leukemia that develops after cancer treatmentFrom Washington University in St. Louis: For a small percentage of cancer patients, treatment aimed at curing the disease leads to a form of leukemia with a poor prognosis. Conventional thinking goes that chemotherapy and radiation therapy induce a barrage of damaging genetic mutations that kill cancer cells yet inadvertently spur the development of acute myeloid leukemia (AML), a blood cancer. But a new study at Washington University School of Medicine in St. Louis challenges the view that cancer treatment in itself is a direct cause of what is known as therapy-related AML. The team's findings, reported Dec. 8 in the journal Nature, open new avenues for research to predict which patients are at risk of developing therapy-related AML and to find ways to prevent it. The research was funded in part by the National Human Genome Research Institute.

December 3, 2014: Study validates usefulness of genomic medicine in children with neurologic and developmental disordersFrom Children's Mercy Hospital: Results from 100 families with children affected by a broad range of neurologic and developmental disorders who underwent genomic testing to end their quest for a diagnosis, were published today in Science Translational Medicine. This is the first study to show that a genome-based diagnostic approached directly impacts patient care of both infants and older children with neurologic disorders. Forty-five percent of families received a diagnosis by exome or genome sequencing, fifty percent of those diagnosed had a change in clinical impression or management and, in older children, genome-based diagnosis could have cut the wait for a diagnosis by more than six years. The study was led by Dr. Sarah Soden and Dr. Stephen Kingsmore of the Center for Pediatric Genomic Medicine at Children's Mercy. Dr. Kingsmore is an NHGRI Newborn Sequencing program grantee.

November 24, 2014: ASU, IBM collaboration moves ultrafast, low-cost DNA sequencing technology one step closer to realityFrom Arizona State University: A team of scientists from Arizona State University's Biodesign Institute and IBM's T.J. Watson Research Center have developed a prototype DNA reader that could make whole genome profiling an everyday practice in medicine. Such technology could help usher in the age of personalized medicine, where information from an individual's complete DNA and protein profiles could be used to design treatments specific to their individual makeup. This research was funded by the National Human Genome Research Institute.

November 24, 2014: Researchers produce largest scale map of human protein interactionsFrom Dana-Farber Cancer Institute: Scientists will be better able to trace how genetic changes give rise to diseases ranging from cancer to Huntington's disease with a new map of protein-protein interactions within human cells produced by researchers at the Center for Cancer Systems Biology (CCSB) at Dana-Farber Cancer Institute and associates around the world.The expanded map, published online today by the journal Cell, is approximately 30 percent larger than the combination of all small-scale studies published in the scientific literature, and suggests that scientists may have been too narrowly focused in tracking the mechanisms responsible for disease. The research was funded in part by the National Human Genome Research Institute.

November 20, 2014: Of mice and men: Researchers compare mammals' genomes to aid human clinical researchFrom Stanford University: For years, scientists have considered the laboratory mouse one of the best models for researching disease in humans because of the genetic similarity between the two mammals. Now, researchers at the Stanford University School of Medicine have found that the basic principles of how genes are controlled are similar in the two species, validating the mouse's utility in clinical research. The research was funded in part by the National Human Genome Research Institute.

November 10, 2014: The cat's meow: Genome reveals clues to domesticationFrom Washington University in St. Louis: Cats and humans have shared the same households for at least 9,000 years, but we still know very little about how our feline friends became domesticated. An analysis of the cat genome led by researchers at Washington University School of Medicine in St. Louis reveals some surprising clues. The research appears Nov. 10 in the Proceedings of the National Academy of Sciences Early Edition. The research was funded by the National Human Genome Research Institute at the National Institutes of Health (NIH).

October 23, 2014: Thyroid cancer genome analysis finds markers of aggressive tumorsFrom the University of Michigan: A new comprehensive analysis of thyroid cancer from The Cancer Genome Atlas Research Network has identified markers of aggressive tumors, which could allow for better targeting of appropriate treatments to individual patients. The finding suggests the potential to reclassify the disease based on genetic markers and moves thyroid cancer into a position to benefit more from precision medicine. In this TCGA study, which is published in Cell, the researchers analyzed nearly 500 thyroid cancer samples to identify all genetic mutations that play a role. They found several new cancer genes as well as new variations of existing genes. The research is a part of The Cancer Genome Atlas initiative, a joint project of the National Cancer Institute and the National Human Genome Research Institute of the National Institutes of Health.

October 21, 2014: Study: Most respond well to genetic testing resultsFrom Washington University in St. Louis: People at high risk for psychological distress respond positively to receiving results of personalized genetic testing, according to new research at Washington University School of Medicine in St. Louis. More than 60 percent of subjects in the genetic study wanted information about their test results, which detailed the risks for lung, prostate and colorectal cancers, type 2 diabetes and heart attack. And 95 percent said they appreciated receiving the information, regardless of whether the results were good or bad news. The findings, were published online in the journal Genetics in Medicine. This work was funded in part by the National Human Genome Research Institute.

October 20, 2014: Whole exome sequencing closer to becoming "new family history"From Baylor College of Medicine: Approximately one-fourth of the 3,386 patients whose DNA was submitted for clinical whole exome testing received a diagnosis related to a known genetic disease, often ending a long search for answers for them and their parents, said researchers from the Baylor College of Medicine departments of molecular and human genetics and pediatrics and the Baylor Human Genome Sequencing Center and the University of Texas Health Science Center at Houston. In an online report in the Journal of the American Medical Association, the scientists led by Drs. Yaping Yang, laboratory director of the Whole Genome Laboratory at Baylor, and Christine Eng, professor of molecular and human genetics at Baylor and senior director of Baylor's Medical Genetics Laboratories, found a molecular diagnosis (meaning a genetic mutation or variation linked to a disease) in 25 percent of the large group of cases - confirming in this much larger group of patients the diagnostic yield from their initial report on the first 250 cases that appeared in the New England Journal of Medicine a little more than a year ago. Partial support for this work came from the National Human Genome Research Institute.

September 22, 2014: Experts provide much-needed policy analysis for clinical integration of next generation sequencingFrom Baylor College of Medicine: As genetic sequencing technologies continue to evolve rapidly, becoming part of clinical care, there is a critical need to establish appropriate policies and regulatory frameworks to address potential challenges, legal and ethical experts have said. A special policy issue of the Journal of Law, Medicine & Ethics published online today and edited by experts with the Center for Medical Ethics and Health Policy at Baylor College of Medicine gives policy makers the tools to jumpstart this process. Experts with the Center for Medical Ethics and Health Policy at Baylor were tapped to serve as editors of this special issue of the journal, which addressed a variety of topics including U.S. Food and Drug Administration regulation, reimbursement, intellectual property issues, and proprietary databases. They did so with the help of a $1.6 million National Human Genome Research Institute.

September 17, 2014: Healthy humans make nice homes for virusesFrom Washington University in St. Louis: The same viruses that make us sick can take up residence in and on the human body without provoking a sneeze, cough or other troublesome symptom, according to new research at Washington University School of Medicine in St. Louis. On average, healthy individuals carry about five types of viruses on their bodies, the researchers report online in BioMed Central Biology. The study is the first comprehensive analysis to describe the diversity of viruses in healthy people. The research was supported by the National Human Genome Research Institute.

September 11, 2014: Center to Find Drug Combinations that Reduce Side EffectsFrom Mt. Sinai: A research team from the Icahn School of Medicine at Mount Sinai today received a $12 million grant from the National Institutes of Health to create a center that will screen massive data sets for new uses of existing drugs, and confirm them in human cell tests. The center's first mission will be to find FDA-approved drugs that reduce side effects when paired with hundreds of leading drugs against common, deadly diseases. The grants are a part of the LINCS program, administered through NHGRI's Division of Genome Sciences.

September 3, 2014: Sequencing of five African fishes reveals diverse molecular mechanisms underlying evolutionFrom Broad Institute: In an effort to understand the molecular basis of adaptation in vertebrates, researchers sequenced the genomes and transcriptomes of five species of African cichlid fishes. A research team led by scientists at the Broad Institute of MIT and Harvard uncovered a variety of features in the cichlid genomes that enabled the fishes to thrive in new habitats and ecological niches within the Great Lakes of East Africa. In addition to helping explain the complex genomic mechanisms that give rise to incredible diversity among cichlid fishes, the findings from these "natural mutants" shed new light on the molecular process of evolution in all vertebrate species. This research, funded in part by NHGRI, appears in the Sept. 3 advanced online edition of Nature.

August 28, 2014: Ebola genomes sequencedFrom Harvard University: Responding rapidly to the deadly outbreak of Ebola virus disease (EVD) in West Africa, a team of researchers from the Broad Institute and Harvard University, working with the Sierra Leone Ministry of Health and Sanitation and researchers elsewhere, has sequenced and analyzed many Ebola virus genomes. Their findings could have important implications for rapid field diagnostic tests. The researchers hope their results (reported in the Aug. 29 issue of Science) will speed up scientific understanding of the epidemic and assist global efforts to contain it. Principal investigators from the H3Africa Initiative - a part of the NIH Common Fund - contributed to the findings.

August 27, 2014: Humans, flies, worms: Researchers work to understand gene expression across organismsFrom Stanford University: Researchers at the Stanford University School of Medicine have found that although many aspects of regulatory networks are conserved among the three distantly related organisms, other differences have emerged over evolutionary time. These differences may explain why, for example, worms slither, flies fly and humans walk on two legs, even though they all use the same basic genetic building blocks. Under the Model Organism ENCyclopedia of DNA Elements (modENCODE) Project - the research was conducted as part of a multi-institutional collaborative effort to understand more about how organisms control the expression of their genes to generate neurons, muscles, skin, blood and all of the other types of cells and tissues necessary for complex life - all at the exactly right time and place in the body. NHGRI funded the research.

August 20, 2014:Test Reliably Detects Inherited Immune Deficiency in NewbornsFrom the National Institute of Allergy and Infectious Diseases: A newborn screening test for severe combined immunodeficiency (SCID) reliably identifies infants with this life-threatening inherited condition, leading to prompt treatment and high survival rates, according to a study supported by the National Institutes of Health. Researchers led by Jennifer Puck, M.D., of the University of California, San Francisco, also found that SCID affects approximately 1 in 58,000 newborns, indicating that the disorder is less rare than previously thought. The study was funded in part by NIH's National Institute of Allergy and Infectious Diseases (NIAID) and Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). It appears in the Aug. 20 issue of the Journal of the American Medical Association.Dr. Puck is a former NHGRI researcher, and the SCID newborn screening test was originally developed at NHGRI.

August 18, 2014:8,000-Year-Old Mutation Key to Human Life at High AltitudesFrom the University of Utah: In an environment where others struggle to survive, Tibetans thrive in the thin air on the Tibetan Plateau, with an average elevation of 14,800 feet. A University of Utah led discovery that hinged as much on strides in cultural diplomacy as on scientific advancements, is the first to identify a genetic variation, or mutation, that contributes to the adaptation, and to reveal how it works. The research appears online in the journal Nature Genetics on Aug. 17, 2014. NHGRI helped fund the research.

August 8, 2014: Researchers Find Molecular Similarities Among Head and Neck, Lung, and Bladder CancersFrom National Institute of Deafness and other Communication Disorders: Researchers at the National Institute on Deafness and Other Communication Disorders (NIDCD), one of the National Institutes of Health (NIH), working as part of a team of scientists with The Cancer Genome Atlas (TCGA) Network, have identified a characteristic molecular pattern shared by head and neck, lung, and some bladder cancers. The molecular profile offers information that could help physicians diagnose and develop new treatment strategies for these diseases. The research is a part of The Cancer Genome Atlas initiative, a joint project of the National Cancer Institute and the National Human Genome Research Institute of the National Institutes of Health.

August 7, 2014: Cancer study reveals powerful new system for classifying tumorsFrom UCSC: Cancers are classified primarily on the basis of where in the body the disease originates, as in lung cancer or breast cancer. According to a new study, however, one in ten cancer patients would be classified differently using a new classification system based on molecular subtypes instead of the current tissue-of-origin system. This reclassification could lead to different therapeutic options for those patients, scientists reported in a paper published August 7 in Cell. The research is a part of The Cancer Genome Atlas initiative, a joint project of the National Cancer Institute and the National Human Genome Research Institute of the National Institutes of Health.

August 7, 2014: Largest cancer genetic analysis reveals new way of classifying cancerFrom University of North Carolina: Researchers with The Cancer Genome Atlas (TCGA) Research Network have completed the largest, most diverse tumor genetic analysis ever conducted, revealing a new approach to classifying cancers. The work, led by researchers at the UNC Lineberger Comprehensive Cancer Center at the University of North Carolina at Chapel Hill and other TCGA sites, not only revamps traditional ideas of how cancers are diagnosed and treated, but could also have a profound impact on the future landscape of drug development. The TCGA is a joint project of the National Cancer Institute and the National Human Genome Research Institute of the National Institutes of Health.

July 24, 2014: JAX researchers find new mechanism for neurodegenerationFrom The Jackson Laboratory: A research team led by Jackson Laboratory Professor and Howard Hughes Investigator Susan Ackerman, Ph.D., have pinpointed a surprising mechanism behind neurodegeneration in mice, one that involves a defect in a key component of the cellular machinery that makes proteins, known as transfer RNA or tRNA.

July 21, 2014: Marmoset sequence sheds light on primate biology, evolutionFrom Baylor College of Medicine: A team of scientists from around the world led by Baylor College of Medicine and Washington University in St. Louis has completed the genome sequence of the common marmoset - the first sequence of a New World Monkey - providing new information about the marmoset's unique rapid reproductive system, physiology and growth, shedding new light on primate biology and evolution. The team published the work July 20th in the journal Nature Genetics.NHGRI funded the research.

July 14, 2014: Study Finds Cause of Mysterious Food Allergy, Suggests New Treatment StrategyFrom Cincinnati Children's: New research in Nature Genetics identifies a novel genetic and molecular pathway in the esophagus that causes eosinophilic esophagitis (EoE), opening up potential new therapeutic strategies for an enigmatic and hard-to-treat food allergy. EoE is a chronic inflammatory disorder of the esophagus. The condition is triggered by allergic hypersensitivity to certain foods and an over-accumulation in the esophagus of white blood cells called eosinophils (part of the body's immune system). EoE can cause a variety of gastrointestinal complaints including reflux-like symptoms, vomiting, difficulty swallowing, tissue scarring, fibrosis, the formation of strictures and other medical complications. NHGRI helped fund the research.

July 14, 2014: Media Availability: Scientists Deepen Genetic Understanding of Eosinophilic EsophagitisFrom the National Institute of Allergy and Infectious Diseases:Scientists funded by the National Institutes of Health (NIH) have identified genetic markers associated with eosinophilic esophagitis (EoE), an inflammatory disease characterized by high levels of immune cells called eosinophils in the esophagus. Their findings suggest that several genes are involved in the development of EoE, which can cause difficulty eating and often is associated with food allergies. The findings also may help explain why the disease specifically affects the esophagus. The work was supported in part by the Consortium of Food Allergy Research, which is funded by NIH's National Institute of Allergy and Infectious Diseases and National Institute of Diabetes and Digestive and Kidney Diseases, ad the National Human Genome Research Institute.

June 27, 2014: Growing Unknown Microbes One by OneFrom CalTech:A new technique developed at Caltech helps grow individual species of the unknown microbes that live in the human body. Trillions of bacteria live in and on the human body; a few species can make us sick, but many others keep us healthy by boosting digestion and preventing inflammation. Employing the use of a specially designed glass chip with tiny compartments, Caltech researchers now provide a way to target and grow specific microbes from the human gut-a key step in understanding which bacteria are helpful to human health and which are harmful.Proceedings of the National Academy of Sciences. NHGRI funded the research.

June 25, 2014: Nanopore technique rapidly decodes long DNA strandsFrom University of Washington Health Sciences: A low-cost technology may make it possible to read long sequences of DNA far more quickly than current techniques. The research advances a technology, called nanopore DNA sequencing. If perfected it could someday be used to create handheld devices capable of quickly identifying DNA sequences from tissue samples and the environment, the University of Washington researchers who developed and tested the approach said. The paper Decoding long nanopore sequencing reads of natural DNA describes the new technique. It appears June 25 in the advanced online edition of the journal Nature Biotechnology.

June 25, 2014: Researchers hone in on way to predict aggressiveness of oral cancerFrom Washington University in St. Louis: Studying mouth cancer in mice, investigators at Washington University in St. Louis have found a way to predict the aggressiveness of similar tumors in people, an early step toward a diagnostic test that could guide treatment. This research was supported in part by funding from the National Human Genome Research Institute.

June 18, 2014: University of Maryland School of Medicine Researchers Receive NIH Grant to Develop Personalized Medicine Program for Genetic Types of DiabetesFrom the University of Maryland School of Medicine: Researchers at the University of Maryland were awarded a four-year, $3.7 million grant to develop a personalized medicine program to help doctors diagnose and treat monogenic diabetes - a form of diabetes caused by a mutation in a single gene. The study will evaluate methods to implement this program in various health care settings, with an objective to develop a model that could also be applied to caring for patients with genetic variations of other common diseases. The project is funded by the National Human Genome Research Institute through the Implementing Genomics In Practice (IGNITE) consortium.

June 9, 2014: Longer Telomeres Linked to Risk of Brain CancerFrom the University of California San Francisco:New genomic research led by UC San Francisco scientists reveals that two common gene variants that lead to longer telomeres, the caps on chromosome ends thought by many scientists to confer health by protecting cells from aging, also significantly increase the risk of developing the deadly brain cancers known as gliomas. The research was published online in Nature Genetics on June 8, 2014. Data from individuals participating in The Cancer Genome Atlas project, which is sponsored by the National Cancer Institute and National Human Genome Research Institute, helped support the research.

June 4, 2014: Chipping away at the cause behind rare tumorsFrom Baylor College of Medicine:A new study by an international collaboration of researchers, including those from Baylor College of Medicine, has uncovered the underlying mutations in intracranial germ cell tumors, which could lead to new therapeutic targets. The findings were published in a recent edition of the journal Nature. The research was supported in part by funding from National Human Genome Research Institute.

April 24, 2014: International collaboration unravels novel mechanism for neurological disorderFrom Baylor College of Medicine:A team of international scientists led by Baylor College of Medicine has discovered a novel gene (CLP1) associated with a neurological disorder affecting both the peripheral and central nervous systems. Together with scientists in Vienna they show that disturbance of a very basic biological process, tRNA biogenesis, can result in cell death of neural progenitor cells. This leads to abnormal brain development and a small head circumference as well as dysfunction of peripheral nerves.The study published today in the current issue of the journal Cell. Funding for this work was provided in part by the National Human Genome Research Institute.

April 24, 2014: Genetic legacy from the Ottoman Empire: Single mutation causes rare brain disorderFrom Yale: An international team of researchers have identified a previously unknown neurodegenerative disorder and discovered it is caused by a single mutation in one individual born during the height of the Ottoman Empire in Turkey about 16 generations ago.The genetic cause of the rare disorder was discovered during a massive analysis of the individual genomes of thousands of Turkish children suffering from neurological disorders. Two papers published in the April 24 issue of the journal Cell document the devastating effects of a mutation in the CLP1 gene. Funding for the study was provided in part by the National Human Genome Research Institute.

April 24, 2014: Researchers Discover New Genetic Brain Disorder in HumansFrom UCSD: A newly identified genetic disorder associated with degeneration of the central and peripheral nervous systems in humans, along with the genetic cause, is reported in the April 24, 2014 issue of Cell. By performing DNA sequencing of more than 4,000 families affected by neurological problems, the two research teams independently discovered that a disease marked by reduced brain size and sensory and motor defects is caused by a mutation in a gene called CLP1, which is known to regulate tRNA metabolism in cells. Insights into this rare disorder, the researchers said, may have important implications for the future treatment of more common neurological conditions. Funding for the study was provided in part by the National Human Genome Research Institute.

April 11, 2014: Yeast provides genetic clues on drug responseFrom the University of British Columbia: Researchers at the University of British Columbia exposed 6,000 strains of yeast to 3,000 drugs. Yeast strains were modified so their response could be measured. Researchers found that the yeast cells have about 50 main ways in which they react to any drug.These 50 major response types, known as gene signatures, are like fingerprints that identify all genes and their relevance to a specific drug treatment. This relatively small number of gene signatures means that it might be possible to eventually use a person's genome to predict their drug response. It could also make it easier to identify more effective therapies. The study was published in the April 10 issue of Science. The study was supported in part by a grant from the National Human Genome Research Institute.

April 7, 2014: Amino acid fingerprints revealed in new studyFrom Arizona State University: Stuart Lindsay and his colleagues at Arizona State University's Biodesign Institute have taken a major step in demonstrating the accurate identification of amino acids, by briefly pinning each in a narrow junction between a pair of flanking electrodes and measuring a characteristic chain of current spikes passing through successive amino acid molecules. The new work advances the prospect of clinical protein sequencing and the discovery of new biomarkers-early warning beacons signaling disease. Further, protein sequencing may radically transform patient treatment, enabling precise monitoring of disease response to therapeutics, at the molecular level. The group's research results are reported in the advanced online edition of the journal Nature Nanotech. The current research received funding from the National Institute of Health's National Human Genome Research Institute (NHGRI).

March 19, 2014: Scientists Describe Gut Bacteria that Cause Sepsis in Preterm InfantsFrom the National Institute of Allergy and Infectious Diseases:Researchers studying intestinal bacteria in newborns have characterized the gut bacteria of premature infants who go on to develop sepsis, a serious and potentially life-threatening condition caused by bacteria in the bloodstream. Their findings suggest new strategies for the early detection and prevention of severe bloodstream infections. The research was funded by several components of the National Institutes of Health (NIH)-the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the National Human Genome Research Institute (NHGRI), the National Institute of Allergy and Infectious Diseases (NIAID), the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and the NIH Common Fund-and other organizations. The research is published in the March 19 issue of Clinical Infectious Diseases.

March 18, 2014:Study of complete RNA collection of fruit fly uncovers unprecedented complexityFrom Indiana University: Scientists from Indiana University are part of a consortium that has described the transcriptome of the fruit fly Drosophila melanogaster in unprecedented detail, identifying thousands of new genes, transcripts and proteins. In the new work, published Sunday, March 16, in the journal Nature, scientists studied the transcriptome - the complete collection of RNAs produced by a genome - at different stages of development, in diverse tissues, in cells growing in culture, and in flies stressed by environmental contaminants. To do so, they used contemporary sequencing technology to sequence all of the expressed RNAs in greater detail than ever before possible. The 41 co-authors of the study were from 11 universities and institutes that are members of the National Human Genome Research Institute's Model Organism Encyclopedia of DNA Elements project, or modENCODE.

March 16, 2014: Vast Gene-Expression Map Yields Neurological and Environmental Stress InsightsFrom Lawrence Berkeley National Laboratory: A consortium led by scientists from the U.S. Department of Energy's Lawrence Berkeley National Laboratory (Berkeley Lab) has conducted the largest survey yet of how information encoded in an animal genome is processed in different organs, stages of development, and environmental conditions. Their findings paint a new picture of how genes function in the nervous system and in response to environmental stress.They report their research this week in the Advance Online Publication of the journal Nature. The research was funded by the National Human Genome Research Institute modENCODE Project.

March 14, 2014: Taking immune cells for a test driveFrom the Broad Institute: A team of Broad scientists, collaborating with colleagues at Brigham and Women's Hospital (BWH) and Harvard Medical School (HMS), recently demonstrated how combining sophisticated biological experimentation on human white blood cells with advanced computational methods can help explain the functional impact of human genetic variation on immune disease. The new work appeared in the March 7 issue of Science. The study incorporates data from 1000 Genomes and ENCODE and was supported in part by CEGS, PECASE and institutional training grants from NHGRI.

March 13, 2014: Detecting, Testing, Treating Rare Diseases: Technology Delivers New Era of PersonalizationFrom Cedars-Sinai: A team of researchers from the National Institutes of Health, Emory University and Cedars-Sinai - specialists in identifying and treating very rare diseases - used three innovative tools to detect a previously unknown gene mutation, test potential therapies in the lab, and initiate personalized drug treatment for a boy with a lifelong history of uncontrollable seizures that caused significant impact on his cognitive and social development. The study, published March 3 in the Annals of Clinical and Translational Neurology, has sixteen contributing authors, including William A. Gahl, M.D., Ph.D., clinical director, NHGRI.

March 10, 2014: New genetic cause of children's liver disease discoveredFrom Kings College London: The discovery of a 'faulty gene' in children with liver disease could pave the way for new treatments for children with a range of serious and life-threatening liver conditions. The findings - published on March 9th in Nature Genetics - follow two years of research by doctors and scientists at King's College London and King's College Hospital, both part of King's Health Partners AHSC. An NHGRI grant helped fund the research.

March 3, 2014: Media Availability: NIH Team Identifies New Genetic SyndromeFrom the National Institute of Allergy and Infectious Diseases: Researchers at the National Institutes of Health (NIH) have identified a new genetic syndrome characterized by a constellation of health problems, including severe allergy, immune deficiency, autoimmunity and motor and neurocognitive impairment. The researchers, led by scientists at the NIH's National Institute of Allergy and Infectious Diseases (NIAID), observed that the syndrome's diverse symptoms are the result of mutations in a single gene associated with sugar metabolism. They plan to evaluate certain types of sugars as a potential treatment for people with this rare genetic condition in an upcoming clinical trial. The study, published in the Journal of Allergy and Clinical Immunology, was conducted by scientists from NIAID, the National Human Genome Research Institute and the National Institute of Neurological Disorders and Stroke, all components of NIH, and collaborators.

March 3, 2014: Media Availability:Study of Antibody Evolution Charts Course toward HIV VaccineFrom the National Institute of Allergy and Infectious Diseases: In an advance for HIV vaccine research, a scientific team has discovered how the immune system makes a powerful antibody that blocks HIV infection of cells by targeting a site on the virus called V1V2. Many researchers believe that if a vaccine could elicit potent antibodies to a specific conserved site in the V1V2 region, one of a handful of sites that remains constant on the fast-mutating virus, then the vaccine could protect people from HIV infection. Analyses of the results of a clinical trial of the only experimental HIV vaccine to date to have modest success in people suggest that antibodies to sites within V1V2 were protective. The new findings point the way toward a potentially more effective vaccine that would generate V1V2-directed HIV neutralizing antibodies. The research, published in the journal Nature, is from a collaboration of authors, including Jim Mullikin, director of the NIH Intramural Sequencing Center, administered by NHGRI.

March 3, 2014: Study pinpoints protective mutations for type 2 diabetesFrom the Broad Institute: An international team led by researchers at the Broad Institute and Massachusetts General Hospital (MGH) has identified mutations in a gene that can reduce the risk of developing type 2 diabetes, even in people who have risk factors such as obesity and old age. The results focus the search for developing novel therapeutic strategies for type 2 diabetes; if a drug can be developed that mimics the protective effect of these mutations, it could open up new ways of preventing this devastating disease. NHGRI helped fund the research.

February 28, 2014: First of its kind web portal to bolster research and treatment for rare diseasesFrom Children's Hospital of Eastern Ontario: A new web portal - PhenomeCentral - is being launched today as a resource for clinicians and scientists worldwide to learn about the existence of cases similar to their own and to eventually improve the understanding of disorder symptoms and underlying causes. The NIH Undiagnosed Diseases Program, administered by the National Human Genome Research Institute is a founding partner in the PhenomeCentral consortium.

February 28, 2014: New method IDs working copies of genes in human cells; could help diagnose sick tissues earlyFrom Harvard Medical School: In biology, as in real estate, location matters. Working copies of active genes - called messenger RNAs or mRNAs - are positioned strategically throughout living tissues, and their location often helps regulate how cells and tissues grow and develop. Now a team at the Wyss Institute of Biologically Inspired Engineering at Harvard University and Harvard Medical School, in collaboration with the Allen Institute for Brain Science, has developed a new method that allows scientists to pinpoint thousands of mRNAs and other types of RNAs at once in intact cells - all while determining the sequence of letters, or bases, that identify them and reveal what they do. The project was funded by NHGRI's Centers of Excellence in Genomic Science.

February 10, 2014: Shortening guide RNA markedly improves specificity of CRISPR-Cas nucleasesFrom Massachusetts General Hospital: A simple adjustment to a powerful gene-editing tool may be able to improve its specificity. In a report receiving advance online publication in Nature Biotechnology, Massachusetts General Hospital (MGH) investigators describe how adjusting the length of the the guide RNA (gRNA) component of the synthetic enzymes called CRISPR-Cas RNA-guided nucleases (RGNs) can substantially reduce the occurrence of DNA mutations at sites other than the intended target, a limitation the team had previously described just last year. NHGRI helped fund the study.

January 24, 2014: Study expands the cancer genomics universeFrom The Broad Institute: A landmark study across many cancer types reveals that the universe of cancer mutations is much bigger than previously thought. By analyzing the genomes of thousands of patients' tumors, a Broad Institute-led research team has discovered many new cancer genes - expanding the list of known genes tied to these cancers by 25 percent. Moreover, the study shows that many key cancer genes still remain to be discovered. The team's work, which lays a critical foundation for future cancer drug development, also shows that creating a comprehensive catalog of cancer genes for scores of cancer types is feasible with as few as 100,000 patient samples. Funding for these studies was provided in part by the National Human Genome Research Institute.

January 22, 2014: New studies show that many rare mutations contribute to schizophrenia riskFrom The Broad Institute: Researchers from the Broad Institute and several partnering institutions have taken a closer look at the human genome to learn more about the genetic underpinnings of schizophrenia. In two studies published this week in Nature, scientists analyzed the exomes, or protein-coding regions, of people with schizophrenia and their healthy counterparts, pinpointing the sites of mutations and identifying patterns that reveal clues about the biology underlying the disorder. Funding for these studies was provided in part by the National Human Genome Research Institute.

January 22, 2014: NIH and Appistry Partner to Implement Genetic Analysis Pipeline for Undiagnosed Diseases ProgramFrom Appistry: Appistry, Inc., a leading provider of high-performance computing and analytics solutions for next-generation medicine, is partnering with the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH) to implement a unique genetic-analysis pipeline for patient diagnosis. Assembled by the NIH and brought into production by Appistry, the pipeline considers family genetics to narrow the search for the genetic changes that underlie many rare and undiagnosed diseases. NHGRI helped establish the Undiagnosed Diseases Program.

January 22, 2014: Study shows 1 in 5 women with ovarian cancer has inherited predispositionFrom Washington University in St. Louis: A new study conservatively estimates that one in five women with ovarian cancer has inherited genetic mutations that increase the risk of the disease, according to research at Washington University School of Medicine in St. Louis. Most women in the study would have been unaware of a genetic predisposition to ovarian cancer because they didn't have strong family histories that suggested it.The research, published Jan. 22 in Nature Communications, is the first large-scale analysis of the combined contributions of inherited and acquired mutations in a major cancer type.NHGRI helped fund the study.

January 19, 2014:Decoded: DNA of blood-sucking worm that infects world's poorFrom Washington University in St. Louis: Going barefoot in parts of Africa, Asia and South America contributes to hookworm infections, which afflict an estimated 700 million of the world's poor. The parasitic worm lives in the soil and enters the body through the feet. By feeding on victims' blood, the worms cause anemia and, in children, stunted growth and learning problems. Now, researchers at Washington University School of Medicine in St. Louis have decoded the genome of the hookworm, Necator americanus, finding clues to how it infects and survives in humans and to aid in development of new therapies to combat hookworm disease. The research is published Jan. 19 in Nature Genetics. The genome sequencing and annotation work was funded by NHGRI.

January 9, 2014: Elephant shark genome decoded From Washington University in St. Louis: An international team of researchers has sequenced the genome of the elephant shark, a curious-looking fish with a snout that resembles the end of an elephant's trunk. The elephant shark and its cousins the sharks, rays, skates and chimaeras are the world's oldest-living jawed vertebrates. But their skeletons are made of cartilage rather than bone, making this group of vertebrates an oddity on the evolutionary tree.

2013

December 19, 2013: Genzyme and NORD Establish Program to Help Undiagnosed Patients with Rare DiseasesFrom Genzyme: Genzyme, a Sanofi company (EURONEXT: SAN and NYSE: SNY), and the National Organization for Rare Disorders (NORD) today announced the creation of a fund to pay for standard diagnostic testing for people with mysterious, undiagnosed medical conditions. The fund will help those who have applied to the National Institutes of Health (NIH) Undiagnosed Diseases Program, but who cannot afford the basic medical tests needed to make them eligible to participate in the NIH program. The Undiagnosed Diseases Program was organized in part by the National Human Genome Research Institute.

December 18, 2013: Neandertal genome project reaches its goalFrom the Max Planck Institute for Evolutionary Anthropology: An international research team led by Kay Prüfer and Svante Pääbo of the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany, has determined a high-quality genome sequence of a Neandertal woman. The genome allows detailed insights into the relationships and population history of the Neandertals and other extinct hominin groups. The results reveal that gene flow among such groups was common but generally of low magnitude. It also provides a definitive list of the DNA sequence changes that distinguish modern humans from our nearest extinct relatives. NHGRI's Dr. Jim Mullikin is an author on the paper.

December 15, 2013: New genetic analysis method holds promise for understanding causes of diseaseFrom the University of Michigan: University of Michigan School of Public Health researchers have developed a new method for identifying rare gene variants, which scientists now believe are more informative for human disease studies than the common variants extensively researched over the past few years. The sophisticated method, detailed in the current issue of Nature Genetics, will allow researchers to study larger numbers of people to pinpoint genetic mutations that could be the culprits in disease. NHGRI helped fund the research.

December 12, 2013:Speeding up gene discoveryFrom the Massachusetts Institute of Technology: Since the completion of the Human Genome Project, which identified nearly 20,000 protein-coding genes, scientists have been trying to decipher the roles of those genes. A new approach developed at MIT, the Broad Institute, and the Whitehead Institute should speed up the process by allowing researchers to study the entire genome at once. The new system, known as CRISPR, allows researchers to permanently and selectively delete genes from a cell's DNA. NHGRI helped fund the research.

November 25, 2013:Dekker Lab re-imagines how genomes are assembledFrom UMass Medical School: Scientists at UMass Medical School (UMMS) have developed a new method for piecing together the short DNA reads produced by next-generation sequencing technologies that are the basis for building complete genome sequences. Job Dekker, Ph.D., and colleagues have shown that entire genomes can be assembled faster and more accurately by measuring the frequency of interactions between DNA segments and by using their three-dimensional shape as a guide. Employing this technique, they have been able to place 65 previously unaccounted for DNA fragments in incomplete regions of the human genome. Details of the study appear online in Nature Biotechnology. The study was funded by NHGRI.

November 25, 2013:Mount Sinai Researchers Identify Molecular Changes in the Brain that May Increase Risk for Multiple SclerosisFrom the Mt. Sinai Hospital:Researchers have long suspected that a combination of genetic and environmental factors conspire in the development of multiple sclerosis (MS), an inflammatory disease of the central nervous system that strips nerve cells of their protective myelin sheath. A new study, published today in the online issue of Nature Neuroscience, highlights some of the molecular pathways critical to the onset and progression of this disease. NHGRI helped fund the research.

November 7, 2013:Cost-effective method accurately orders DNA sequencing along entire chromosomesFrom the University of Washington:A new computational method has been shown to quickly assign, order and orient DNA sequencing information along entire chromosomes. The method may help overcome a major obstacle that has delayed progress in designing rapid, low-cost - but still accurate - ways to assemble genomes from scratch. Data gleaned through this new method can also validate certain types of chromosomal abnormalities in cancer, research findings indicate. The advance was reported Nov. 3 in Nature Biotechnology by several University of Washington scientists led by Dr. Jay Shendure, associate professor of genome Sciences. The research was supported in part by a grants from the National Human Genome Research Institute.

November 1, 2013:NIH Scientists Identify a New Immunodeficiency DiseaseFrom the National Institute of Allergy and Infectious Diseases: Scientists from the National Institute of Allergy and Infectious Diseases (NIAID) and National Human Genome Research Institute at the National Institutes of Health have identified a novel, genetic human immunodeficiency called PASLI disease. People with this disease have impaired immune responses, predisposing them to chronic infections and lymphoma, a form of cancer. After pinpointing the genetic cause of PASLI disease, researchers treated one patient with rapamycin, a drug approved by the Food and Drug Administration (FDA) to prevent transplant rejection. The therapy showed promise and will be further evaluated in other patients. The study appears in the October 28, 2013, online issue of Nature Immunology. NHGRI researchers contributed to the study.

October 22, 2013:Whole exome sequencing takes new technology into the clinicFrom Baylor College of Medicine: In a report in the New England Journal of Medicine, researchers at Baylor College of Medicine describe how a new genetic test called whole exome sequencing which determines the DNA sequence of the exons or protein-coding regions of thousands of genes simultaneously, using next-generation sequencing techniques, provided a diagnosis to 25 percent of the first 250 such patients referred to the Baylor Whole Genome Laboratory, demonstrating the value of such technology to individual patients. Funding for this work came from National Human Genome Research Institute.

October 16, 2013:Genetic errors identified in 12 major cancer typesFrom the Washington University in St. Louis: Examining 12 major types of cancer, scientists at Washington University School of Medicine in St. Louis have identified 127 repeatedly mutated genes that appear to drive the development and progression of a range of tumors in the body. The discovery sets the stage for devising new diagnostic tools and more personalized cancer treatments. The research is published in the Oct. 17 issue of in Nature. The work was supported by grants from NHGRI.

October 10, 2013: The Cancer Genome Atlas exposes more secrets of lethal brain tumorFrom the MD Anderson Cancer Center: Five years after TCGA tackled glioblastoma multiforme (GBM), and now older and wiser, it has revisited glioblastoma, producing a broader, deeper picture of the drivers - and potential therapeutic targets - of the disease published in the Oct. 10 issue of Cell. TCGA is a joint project from NHGRI and the National Cancer Institute.

September 26, 2013:New TCGA project finds cancer-driving changes shared across tumor typesFrom the MD Anderson Cancer Center: The Cancer Genome Atlas (TCGA), a massive collaborative effort tracking down the genomic abnormalities that drive cancer in 12 different organs, is now directing its research firepower to examine how those aberrations occur commonly across tumor types. TCGA is a joint project from NHGRI and the National Cancer Institute.

September 25, 2013:Baylor, Stanford medical schools seek to improve clinical understanding of gene changesFrom the Baylor College of Medicine: As gene sequencing technologies rapidly advance and new genomic data becomes available, so does the need for a better understanding and consensus on which gene changes are relevant to diagnosis and treatment.With a $8.4 million, four-year grant announced today from the National Human Genome Research Institute, researchers from Baylor College of Medicine and The Stanford University School of Medicine hope to address this need by creating a central resource.

September 24, 2013:Other errors in genome accompany copy number variationFrom the Baylor College of Medicine: Researchers at Baylor College of Medicine say in a report that appears online in the journal Nature Genetics, that the process of copy number variation (CNV) may be error-prone, generating other, smaller mistakes in the genome. Their studies show that at least in the area near the duplication, small insertions and deletions of the genetic material DNA are common along with single point mutations (single changes in one of the nucleotides that are building blocks of DNA). The mutation rate of those was approximately 10,000 to 100,000-fold greater than for spontaneous mutations generated during formation of human sperm and egg. NHGRI helped fund the study.

September 19, 2013: Genetics in Medicine Publishes Special Issue Dedicated to Genomics in Electronic Health Records: First Collection of its KindFrom the American College of Medical Genetics: In the first collection of its kind, the October 2013 issue of Genetics in Medicine, the official peer-reviewed journal of the American College of Medical Genetics and Genomics, provides a series of research articles detailing challenges and solutions for integrating genomic data into Electronic Health Records (EHR). Most of the contributions derive from the experience of individual sites at comprise the Electronic Medical Records and Genomics (eMERGE) Network, a program administered and funded by the National Human Genome Research Institute through the National Institutes of Health.

August 13, 2013: Researchers find "grammar" plays key role in activating genesFrom UC San Francisco: Researchers have probed deep into the cell's genome, beyond the basic genetic code, to begin learning the "grammar" that helps determine whether or not a gene gets switched on to make the protein it encodes. Their discovery - that the ordering of specific DNA sequences in key regions of the genome affects the activity of genes - might advance efforts to use gene and cell-based therapies to treat disease, said UC San Francisco molecular biologist Nadav Ahituv, PhD, senior scientist on the study. The findings were published online in the journal Nature Genetics on July 28 and will appear in the September print edition. NHGRI was a major funder for the research.

August 7, 2013: UW researchers report on genome of aggressive cervical cancer that killed Henrietta LacksFrom the University of Washington: A team from the University of Washington has unveiled a comprehensive portrait of the genome of the world's first immortal cell line, known as HeLa. The cell line was derived in 1951 from an aggressive cervical cancer that killed Henrietta Lacks, a 31-year-old African-American tobacco farmer and mother of five - the subject of the 2010 New York Times best-seller, "The Immortal Life of Henrietta Lacks." They will also be the first group to publish under a new National Institutes of Health policy for HeLa genomic data, established through discussions with Lacks' family. NHGRI helped fund the analysis.

July 22, 2013 :Research update: Genome editing becomes more accurateFrom the Massachusetts Institute of Technology: MIT researchers have developed a way to easily and efficiently edit the genomes of living cells. Now, the researchers have discovered key factors that influence the accuracy of the system, an important step toward making it safer for potential use in humans, says Feng Zhang, leader of the research team. The study appears in the July 21 online edition of Nature Biotechnology and was funded in part by NHGRI.

July 14, 2013:NIH scientists find that proteins involved in immunity potentially cause cancerFrom the National Institute of Environmental Sciences: A set of proteins involved in the body's natural defenses produces a large number of mutations in human DNA, according to a study led by researchers at the National Institute of Environmental Sciences, National Institutes of Health. The findings suggest that these naturally produced mutations are just as powerful as known cancer-causing agents in producing tumors.The findings are featured online in the journal Nature Genetics. This research was funded by NHGRI as part of The Cancer Genome Atlas (TCGA).

July 10, 2013:Researchers Create Method to Rapidly Identify Specific Strains of IllnesssFrom Boston University School of Medicine: Researchers from Boston University School of Medicine (BUSM) and George Washington University (GWU) have developed a method to rapidly identify pathogenic species and strains causing illnesses, such as pneumonia, that could help lead to earlier detection of disease outbreaks and pinpoint effective treatments more quickly. The findings are featured online in the journal Genome Research. This research was funded by NHGRI.

July 1, 2013: UF Health receives $3.7 million to bring personalized medicine to more FloridiansFrom the University of Florida: Personalized medicine at University of Florida (UF) Health celebrates its first successful year helping heart patients with news of major funding from the National Institutes of Health that will advance the program to more patients and health care providers across the state. A $3.7 million grant to UF Health is one of only three awarded by the National Human Genome Research Institute to support projects that show how patients' individual genetic profiles may be used to better tailor clinical treatments.

June 28, 2013: Henry Louis Gates Jr., Host of PBS Series Finding Your Roots, To Appear at Smithsonian EventFrom the Smithsonian Institution: The Smithsonian Associates will present "The Genomic Journey, Searching for Your Roots" featuring Henry Louis Gates Jr., the host of the PBS series Finding Your Roots. During the program, Gates will trace the genetic histories of Lonnie Bunch, director of the Smithsonian's National Museum of African American History and Culture, and Gwen Ifill, host of Washington Week, live on stage Thursday, Sept. 12, at 7:30 p.m. in Baird Auditorium at the Smithsonian's National Museum of Natural History. The program, organized by the National Museum of African American History and Culture and the National Human Genome Research Institute of the National Institutes of Health, is open to the public; admission is free, but tickets are required.

June 27, 2013: A 700.000 year old horse gets its genome sequencedFrom the University of Copenhagen: Scientists at the Centre for GeoGenetics at the Natural History Museum of Denmark (University of Copenhagen) have sequenced the, so far, oldest genome from a prehistoric creature. They have done so by sequencing and analyzing short pieces of DNA molecules preserved in bone-remnants from a horse that had been kept frozen for the last 700.000 years in the permafrost of Yukon, Canada. By tracking the genomic changes that transformed prehistoric wild horses into domestic breeds, the researchers have revealed the genetic make-up of modern horses with unprecedented details. The spectacular results are now published in the international scientific journal Nature. The research was funded in part by NHGRI.

June 13, 2013: Whole exome sequencing identifies recessive gene as cause of deafnessFrom the Baylor College of Medicine: Sequencing the whole exome (the protein-coding part of the gene) enabled researchers led by those at Baylor College of Medicine to identify a recessive gene mutation associated with deafness. In a report in the American Journal of Human Genetics, the international consortium of researchers described how whole exome sequencing of three hearing-impaired individuals from three unrelated Pakistani families identified two separate missense mutations in a gene known as KARS, which codes for a protein called lysl-tRNA synthetase, and how they ascertained that these particular gene changes could be damaging. The research was funded in part by NHGRI.

April 17, 2013: Coelacanth genome surfacesFrom the Broad Institute: An international team of researchers has decoded the genome of a creature whose evolutionary history is both enigmatic and illuminating: the African coelacanth. A sea-cave dwelling, five-foot long fish with limb-like fins, the coelacanth was once thought to be extinct. A living coelacanth was discovered off the African coast in 1938, and since then, questions about these ancient-looking fish - popularly known as "living fossils" - have loomed large. Coelacanths today closely resemble the fossilized skeletons of their more than 300-million-year-old ancestors. Its genome confirms what many researchers had long suspected: genes in coelacanths are evolving more slowly than in other organisms. NHGRI supported the Broad Institute's contributions, including genome sequencing.

April 4, 2013: Painted turtle gets DNA decodedFrom Washington University in St. Louis: Scientists have decoded the genome of the western painted turtle, one of the most abundant turtles on Earth, finding clues to their longevity and ability to survive without oxygen during long winters spent hibernating in ice-covered ponds. Understanding the natural mechanisms turtles use to protect the heart and brain from oxygen deprivation may one day improve treatments for heart attacks or strokes, the researchers say. The research team includes scientists at Washington University School of Medicine in St. Louis, the University of California at Los Angeles, St. Louis University and other institutions. Their analysis is now available online in Genome Biology. NHGRI helped fund the research.

March 29, 2013: Study reveals the genetic variations that raise the risk of breast, prostate or ovarian cancerFrom Cancer Research UK: Over 80 regions of the genome that can increase an individual's risk of breast, prostate and ovarian cancers have been found in the largest ever study of its kind. The research, led by scientists at the University of Cambridge and The Institute of Cancer Research, London, funded by Cancer Research UK and the Wellcome Trust, could lead to new treatments, targeted screening and a greater understanding of how these diseases develop. The results are also based, in part, on data generated by The Cancer Genome Atlas Pilot Project established by the National Cancer Institute and the National Human Genome Research Institute.

March 24, 2013: Study finds molecular 'signature' for rapidly increasing form of esophageal cancerFrom the Dana-Farber Cancer Institute: During the past 30 years, the number of patients with cancers that originate near the junction of the esophagus and stomach has increased approximately 600 percent in the United States. The first extensive probe of the DNA of these esophageal adenocarcinomas (EACs) has revealed that many share a distinctive mix-up of letters of the genetic code, and found more than 20 mutated genes that had not previously been linked to the disease. The research, led by scientists at Dana-Farber Cancer Institute, the Broad Institute, and other research centers, may offer clues to why EAC rates have risen so sharply. The findings, which are being released as an advanced online publication by Nature Genetics, point to an array of abnormal genes and proteins that may be lynchpins of EAC cell growth and therefore serve as targets for new therapies, according to the study's authors. The work was supported in part by grants from the National Human Genome Research Institute.

March 19, 2013: New Database to Speed Genetic Discoveries From Johns Hopkins Medicine: A new online database combining symptoms, family history and genetic sequencing information is speeding the search for diseases caused by a single rogue gene. As described in an article in the May issue of Human Mutation, the database, known as PhenoDB, enables any clinician to document cases of unusual genetic diseases for analysis by researchers at the Johns Hopkins University School of Medicine or the Baylor College of Medicine in Houston. If a review committee agrees that the patient may indeed have a previously unknown genetic disease, the patient and some of his or her family members may be offered free comprehensive genetic testing in an effort to identify the disease culprit. The Baylor-Hopkins Center for Mendelian Genomics is funded by the National Human Genome Research Institute.

March 6, 2013: Circuitry of cells involved in immunity, autoimmune diseases exposed From the Broad Institute: New work from the Broad Institute's Klarman Cell Observatory, Brigham and Women's Hospital, Harvard University, MIT, and Yale University expands the understanding of how one type of immune cell - known as a T helper 17 or Th17 cell - develops, and how its growth influences the development of immune responses. By figuring out how these cells are "wired," the researchers make a surprising connection between autoimmunity and salt consumption, highlighting the interplay of genetics and environmental factors in disease susceptibility. The results of their work appear in three companion papers in Nature this week. Support for this work was provided in part by the National Human Genome Research Institute.

February 24, 2013: Ancient lamprey DNA decodedFrom Michigan State University: In the current issue of Nature Genetics, a team of scientists has presented an assembly of the sea lamprey genome - the first time the entire sequence has been decoded. The data is compelling as the sea lamprey is one of the few ancient, jawless species that has survived through the modern era. The paper not only sheds light on how the venerable invasive species adapted and thrived, but it also provides many insights into the evolution of all vertebrates, species with backbones and spinal cords, which includes humans. The research was funded primarily by the National Human Genome Research Institute.

January 23, 2013: NIH clinical trial begins for treatment of rare, fatal neurological disorder From the National Center for Advancing Translational Sciences: A clinical trial to evaluate a drug candidate called cyclodextrin as a possible treatment for Niemann-Pick disease type C1 (NPC), a rare and fatal genetic disease, will start today, researchers announced. Scientists from the NIH"s National Center for Advancing Translational Sciences (NCATS) and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) will conduct the clinical trial at the NIH Clinical Center. Reaching this trial stage required collaboration among government, industry, patient advocacy groups and academic researchers. NHGRI is one of the collaborating institutions on the research.

January 20, 2013:Genes And Their Regulatory 'Tags' Conspire To Promote Rheumatoid ArthritisFrom Johns Hopkins Medicine: In one of the first genome-wide studies to hunt for both genes and their regulatory "tags" in patients suffering from a common disease, researchers have found a clear role for the tags in mediating genetic risk for rheumatoid arthritis (RA), an immune disorder that afflicts an estimated 1.5 million American adults. By teasing apart the tagging events that result from RA from those that help cause it, the scientists say they were able to spot tagged DNA sequences that may be important for the development of RA. And they suspect their experimental method can be applied to predict similar risk factors for other common, noninfectious diseases, like type II diabetes and heart ailments. In a report published in Nature Biotechnology on Jan. 20, the researchers at Johns Hopkins and the Karolinska Institutet say their study bridges the gap between whole-genome genetic sequencing and diseases that have no single or direct genetic cause. The study was funded in part by the NHGRI Centers of Excellence in Genomic Scienes program.

2012

December 23, 2012: New findings in the search for genetic clues to insulin productionFrom the University of North Carolina: A cutting-edge genomic analysis method has helped researchers track new genetic contributors relevant to diabetes. The results provide a first example that the new tool can help decipher many complex diseases such as obesity and cancer. NHGRI helped fund the research.

December 19, 2012: What do leeches, limpets and worms have in common?From the University of California at Berkeley: A multinational team, led by researchers at UC Berkeley, published the genomes of the leech and two relatives, the limpet and the marine worm, or polychaete, in the Dec. 20 issue of the journal Nature. The publication comes after five years of efforts analyzing mountains of information provided by the initial sequencing effort to learn what leeches have in common with other animals another and with humans. NHGRI helped fund this research.

October 24, 2012: New Approach Will Analyze Important, Poorly Studied Areas of Human GenomeFrom the Baylor College of Medicine: The latest genomic analysis of pancreatic tumors identified two new pathways involved in the disease, information that could be capitalized on to develop new and earlier diagnostic tests for the disease. A study of pancreatic cancer published online in the October 24 edition of Nature suggests that the disease sometimes involves alterations to genes and pathways best known for their role in axon guidance during embryonic development. The study is the first to report findings from primary tumors in the disease. Previously only cell lines or tumors transplanted into mice had been used because the tumors are so small. NHGRI helped fund the research.

October 2, 2012: New Approach Will Analyze Important, Poorly Studied Areas of Human GenomeFrom the University of Wisconsin School of Medicine and Public Health: Each year, more and more pieces of the human genome puzzle fall into place, but large holes still remain. Researchers at the University of Wisconsin-Madison hope to fill in many more pieces with a new $1.1 million grant from the National Human Genome Research Institute (NHGRI). The grant will support a School of Medicine and Public Health team of researchers who have created new computational tools to analyze important yet poorly studied areas of the human genome.

September 21, 2012: Dark matter DNA active in brain during day-night cycleFrom the National Institutes of Health: Long stretches of DNA once considered inert dark matter appear to be uniquely active in a part of the brain known to control the body's 24-hour cycle, according to researchers at the National Institutes of Health. Working with material from rat brains, the researchers found some expanses of DNA contained the information that generate biologically active molecules. The levels of these molecules rose and fell, in synchrony with 24-hour cycles of light and darkness. Activity of some of the molecules peaked at night and diminished during the day, while the remainder peaked during the day and diminished during the night. The NIH Intramural Sequencing Center (NISC), an NHGRI Affilated Center, collaborated on the research.

September 20, 2012: How the Cheetah Got its Stripes: A Genetic Tale by Standford ResearchersFrom Stanford University: Feral cats in Northern California have enabled researchers to unlock the biological secret behind a rare, striped cheetah found only in sub-Saharan Africa, according to researchers at the Stanford University School of Medicine, the National Cancer Institute and HudsonAlpha Institute for Biotechnology in Huntsville, Alabama. The study is the first to identify a molecular basis of coat patterning in mammals. NHGRI's Jim Mullikin contributed to the research.

August 21, 2012: Stem cells can become anything - but not without this protein, U-M scientists findFrom the University of Michigan: Stem cells have the ability to become any type of cell in the body, but researchers weren't sure why. Now, a University of Michigan Medical School team has published a key discovery that could help answer that question. In the current issue of the prestigious journal Cell Stem Cell, researcher Yali Dou, Ph.D., and her team show the crucial role of a protein called Mof in preserving the "stem-ness" of stem cells, and priming them to become specialized cells in mice. NHGRI helped fund the research.

August 2, 2012: Brain Development is Delayed in Attention-Deficit/Hyperactivity DisorderFrom Biological Psychiatry: Is attention-deficit/hyperactivity disorder (ADHD) due to a delay in brain development or the result of complete deviation from typical development? In the current issue of Biological Psychiatry, Dr. Philip Shaw and colleagues present evidence for delay from a National Institutes of Health study. Dr. Shaw is an investigator with NHGRI's Social and Behavioral Research Branch.

July 30, 2012: Penn-led Study of African Hunter-Gatherers Elucidates Human Variation, Evolution and InterbreedingFrom the University of Pennsylvania: A history of inheritance is written in the DNA of modern Africans, but it takes some investigative work to interpret. In a report to be featured on the cover of the Aug. 3 issue of the journal Cell, University of Pennsylvania geneticists and their colleagues analyze the fully sequenced genomes of 15 Africans belonging to three different hunter-gatherer groups and decipher some of what these genetic codes have to say about human diversity and evolution. The research was funded in part by NHGRI.

July 20, 2012: Hundreds of random mutations in leukemia related to aging, not cancerFrom the University of Washington in St. Louis: Hundreds of mutations exist in leukemia cells at the time of diagnosis, but nearly all occur randomly as a part of normal aging and are not related to cancer, new research shows. Scientists at Washington University School of Medicine in St. Louis have found that even in healthy people, stem cells in the blood routinely accumulate new mutations over the course of a person's lifetime. And their research shows that in many cases only two or three additional genetic changes are required to transform a normal blood cell already dotted with mutations into acute myeloid leukemia (AML). The research is published July 20 in the journal Cell. NHGRI helped fund the research.

July 8, 2012: Exome sequencing of health condition extremes can reveal susceptibility genesFrom the University of Washington: Comparing the DNA from patients at the best and worst extremes of a health condition can reveal genes for resistance and susceptibility. This approach discovered rare variations in the DCTN4 gene among cystic fibrosis patients most prone to early, chronic airway infections. The results of the cystic fibrosis infection susceptibility study appear this Sunday, July 8, in Nature Genetics.The study was funded in part by NHGRI.

July 5, 2012: NIH Common Fund announces new programsFrom the National Institutes of Health: New programs exploring novel approaches to cell-to-cell communication, and understanding undiagnosed diseases, are the latest priorities for the National Institutes of Health Common Fund. The Undiagnosed Diseases Program (UDP) - led by NHGRI Clinical Director William Gahl, M.D., Ph.D. - will provide a new network of medical research centers focused on the discovery, diagnosis, and ultimately care of undiagnosed patients by capitalizing on recent advances in genomics and the infusion of basic researchers in clinical projects.

June 13, 2012: The bonobo genome compared with the chimpanzee and human genomesFrom the Max Planck Institute: In a project led by the Max Planck Institute for Evolutionary Anthropology in Leipzig, an international team of scientists has completed the sequencing and analysis of the genome of the last great ape, the bonobo. Bonobos, which together with chimpanzees are the closest living relatives of humans, are known for their peaceful, playful and sexual behaviour that contrasts with the more aggressive behaviour of chimpanzees. The genome sequence provides insights into the evolutionary relationships between the great apes and may help us to understand the genetic basis of these traits.

June 11, 2012: Decoding DNA finds breast tumor signatures that predict tumor responseFrom the Washington University in St. Louis: Decoding the DNA of patients with advanced breast cancer has allowed scientists to identify distinct cancer "signatures" that could help predict which women are most likely to benefit from estrogen-lowering therapy, while sparing others from unnecessary treatment. The research, which involved Washington University physicians and scientists at the Siteman Cancer Center and The Genome Institute, was published June 10 in the advance online edition of Nature. The research was funded in part by the National Human Genome Research Institute.

June 4, 2012: How Infectious Disease May Have Shaped Human OriginsFrom the UC San Diego Health System: In a paper published in the June 4, 2012 online Early Edition of The Proceedings of the National Academy of Sciences, an international team of researchers, led by scientists at the University of California, San Diego School of Medicine, suggest that inactivation of two specific genes related to the immune system may have conferred selected ancestors of modern humans with improved protection from some pathogenic bacterial strains, such as Escherichia coliK1 and Group B Streptococci, the leading causes of sepsis and meningitis in human fetuses, newborns and infants.

May 9, 2012: New under the sun: recurrent genetic mutations in melanoma From the Broad Institute: Melanoma - the deadliest and most aggressive form of skin cancer - has long been linked to time spent in the sun. Now a team led by scientists from the Broad Institute and Dana-Farber Cancer Institute has sequenced the whole genomes of 25 metastatic melanoma tumors, confirming the role of chronic sun exposure and revealing new genetic changes important in tumor formation. In an article published online May 9 in Nature, the authors provide the first high-resolution view of the genomic landscape of human melanoma tumors. The work was supported in part by the National Human Genome Research Institute.

April 25, 2012: Researchers announce GenomeSpace environment to connect genomic toolsFrom the Broad Institute: Researchers from the Broad Institute of MIT and Harvard have announced that GenomeSpace, a software environment that seamlessly connects genomic analysis tools, is now available to the scientific community. During her keynote address at Bio-IT World Conference and Expo on Tuesday, Jill Mesirov, director of computational biology and bioinformatics at the Broad Institute, invited biomedical researchers and tool developers to explore this beta release of the new resource and to use it in their work.

April 5, 2012: DNA sequencing consortium unveils patterns of mutations in autismFrom the Broad Institute: A consortium led by researchers from the Broad Institute, Massachusetts General Hospital (MGH), and six other organizations has taken a step toward addressing these questions by searching for mutations in the fraction of the human genome that codes for proteins. The researchers sequenced this region, known as the "exome," in 175 autism patients and their unaffected parents, looking for single-letter DNA changes present only in the children. Their results, along with simultaneously published findings from two other research groups, suggest modest roles for hundreds of genes in the development of autism and pinpoint a few specific genes as genuine risk factors. The work is described in a paper that appears online April 4 in the journal Nature. The research was supported by ARRA funding from the National Human Genome Research Institute and the National Institute of Mental Health.

April 5, 2012: Tiny fish bares all: New insights on evolution from study of sticklebacksFrom the Stanford University School of Medicine: Researchers at the Stanford University School of Medicine and the Broad Institute have analyzed the whole-genome sequence of 21 threespine sticklebacks chosen from geographic locations around the world. The findings, which will appear in the April 5 issue of Nature, better identify which regions of the genome are responsible for the stickleback's many variations. Scientists found that the animals - despite their different haunts - repeatedly developed the same traits through changes in similar regions of their genomes. The research was supported by the National Human Genome Research Institute.

March 27, 2012: Tiny reader makes fast, cheap DNA sequencing feasibleFrom the University of Washington: Researchers have devised a nanoscale sensor to electronically read the sequence of a single DNA molecule, a technique that is fast and inexpensive and could make DNA sequencing widely available. The technique could lead to affordable personalized medicine, potentially revealing predispositions for afflictions such as cancer, diabetes or addiction.

March 7, 2012: What have we got in common with a Gorilla?From the Welcome Trust Sanger Institute: Researchers announce today that they have completed the genome sequence for the gorilla - the last genus of the living great apes to have its genome decoded. While confirming that our closest relative is the chimpanzee, the team show that much of the human genome more closely resembles the gorilla than it does the chimpanzee genome. This is the first time scientists have been able to compare the genomes of all four living great apes: humans, chimpanzees, gorillas and orang-utans. NHGRI researchers contributed to the study.

February 17, 2012: Express Yourself: How Zygotes Sort Out Imprinted GenesUniversity of California at San Diego: Writing in the February 17, 2012 issue of the journal Cell, researchers at the Ludwig Institute for Cancer Research, the University of California, San Diego School of Medicine and the Toronto Western Research Institute peel away some of the enduring mystery of how zygotes or fertilized eggs determine which copies of parental genes will be used or ignored. The research was funded in part by the National Human Genome Research Institute.

February 16, 2012: UNC-based collaboration, NC resources fuel genetics and disease discoveries From the University of North Carolina at Chapel Hill: A series of scientific papers published this week put North Carolina at the center of a scientific resource that could help fast-track important discoveries about genetics and disease, resulting in new tests and treatments that benefit human health. Scientists have begun to create libraries of genetic material and the UNC-based Collaborative Cross is one such resource. Lead author Pardo-Manuel de Villena lauded the efforts of the collaborative cross consortium, a global group of scientists that includes National Institutes of Health Director Francis S. Collins, M.D., Ph.D., and National Human Genome Research Institute scientist Samir Kelada, Ph.D.

February 9, 2012: Fruit Fly Genome Catalog CompletedFrom North Carolina State University: Scientists searching for the genomics version of the holy grail - more insight into predicting how an animal's genes affect physical or behavioral traits - now have a reference manual that should speed gene discoveries in everything from pest control to personalized medicine. In a paper published Feb. 8 in Nature, North Carolina State University genetics researchers team with scientists from across the globe to describe the new reference manual - the Drosophila melanogaster Reference Panel, or DGRP. The research was funded in part by the National Human Genome Research Institute.

January 12, 2012: Gut microbe networks differ from norm in obese people, systems biology approach revealsFrom the University of Washington: For the first time, researchers have analyzed the multitude of microorganisms residing in the human gut as a complex, integrated biological system, rather than a set of separate species. Their approach has revealed patterns that correspond with excess body weight. The research was funded in part by the National Human Genome Research Institute.

January 11, 2012:Chemotherapy may influence leukemia relapseFrom the Washington University in St. Louis: The chemotherapy drugs required to push a common form of adult leukemia into remission may contribute to DNA damage that can lead to a relapse of the disease in some patients, findings of a new study suggest. The research, by a team of physicians and scientists at Washington University School of Medicine in St. Louis, is published Jan. 11 in the advance online edition of Nature. The research was funded in part by the National Human Genome Research Institute.

2011

November 2, 2011: KU's Institute for Advancing Medical Innovation, The Leukemia & Lymphoma Society and NIH begin groundbreaking clinical trial for leukemia patientsFrom the University of Kansas Medical Center: As part of an aggressive effort to speed delivery of treatments to patients by finding new uses for approved drugs, researchers at the University of Kansas Medical Center have begun a clinical trial targeting the most common form of adult leukemia with a drug first approved to treat arthritis more than 25 years ago. The trial is one key piece of a larger collaboration between KU, The Leukemia & Lymphoma Society (LLS) and the National Institutes of Health's (NIH) Therapeutics for Rare and Neglected Diseases Program (TRND), administered by NHGRI through the National Center of Translational Therapeutics.

October 31, 2011: $10 Million Archon Genomics X PRIZE to Sequence 100 Centenarians' DNA and Announces Medco as Presenting SponsorFrom the X-PRIZE Foundation: The X PRIZE Foundation has announced a number of major changes to its Archon Genomics X PRIZE, the $10 million competition designed to drive breakthroughs in the future of predictive and personalized medicine to make significant advances in human genome sequencing. Medco Health Solutions, Inc., a leading pharmacy benefit manager, has joined as the competition's Presenting Sponsor. The X PRIZE Foundation and Medco stated the competing teams will sequence 100 genomes of centenarians. The National Human Genome Research Institute is a supporting organization of the X PRIZE Foundation.

October 26, 2011: NIH study shows benefits, limits of therapy for rare inflammatory syndromeFrom the National Institute of Arthritis and Musculoskeletal and Skin Diseases: A study shows that the medication etanercept reduces the frequency and severity of symptoms of TNF receptor-associated periodic syndrome (TRAPS), a rare inherited condition characterized by recurrent fevers, abdominal pain and skin rashes. The study, published in Arthritis & Rheumatism, also points out the need for the development of additional therapies to more thoroughly ease symptoms and prevent long-term complications of the disease. The study was released by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and conceived in 2001 by Keith Hull, M.D., Ph.D., then a rheumatology fellow in the NIAMS under the supervision of Daniel Kastner, M.D, Ph.D., one of the discoverers of the TNF receptor mutations in TRAPS, and now the scientific director of the National Human Genome Research Institute.

October 12, 2011: Dark matter of the genome revealed through analysis of 29 mammalsFrom the Broad Institute: An international team of researchers has discovered the vast majority of the so-called "dark matter" in the human genome, by means of a sweeping comparison of 29 mammalian genomes. The team, led by scientists from the Broad Institute, has pinpointed the parts of the human genome that control when and where genes are turned on. This map is a critical step in interpreting the thousands of genetic changes that have been linked to human disease. Their findings appear online October 12 in the journal Nature. The work was funded in part by the National Human Genome Research Institute.

August 31, 2011: First lizard genome sequenced From the Broad Institute: The green anole lizard is an agile and active creature, and so are elements of its genome. This genomic agility and other new clues have emerged from the full sequencing of the lizard's genome and may offer insights into how the genomes of humans, mammals, and their reptilian counterparts have evolved since mammals and reptiles parted ways 320 million years ago. The researchers who completed this sequencing project reported their findings August 31 online in the journal Nature. The work was funded in part by the National Human Genome Research Institute.

August 26, 2011: New roles emerge for non-coding RNAs in directing embryonic developmentFrom the Broad Institute: Scientists at the Broad Institute of MIT and Harvard have discovered that a mysterious class of large RNAs plays a central role in embryonic development, contrary to the dogma that proteins alone are the master regulators of this process. The research, published online August 28 in the journal Nature, reveals that these RNAs orchestrate the fate of embryonic stem (ES) cells by keeping them in their fledgling state or directing them along the path to cell specialization. The work was funded in part by the National Human Genome Research Institute.

August 22, 2011: Kangaroo genome provides insights into mammalian biologyFrom the Baylor College of Medicine: Sequencing of the first kangaroo - the tammar wallaby - genome provides new information about mammalian evolution, as well as the biology of traits such as hopping and early development, that share genes with humans, reports a consortium of researchers that includes Australian researchers and the Baylor College of Medicine Human Genome Sequencing Center in the journal Genome Biology. Funding was provided, in part, by the National Human Genome Research Institute.

August 11, 2011: NIH-Led Team Maps Route for Eliciting HIV Neutralizing AntibodiesFrom the Vaccine Research Center: Researchers have traced in detail how certain powerful HIV neutralizing antibodies evolve, a finding that generates vital clues to guide the design of a preventive HIV vaccine, according to a study appearing in Science Express. The discoveries were made by a team led by the Vaccine Research Center (VRC) at the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health. NHGRI scientists from the NIH Intramural Sequencing Center (NISC) collaborated with the Vaccine Research Center researchers on this study.

August 9, 2011: New study finds blood test can identify fetal sex as early as 7 weeks gestationFrom the Johns Hopkins University Genetic & Public Policy Center: Fetal sex can be determined reliably with a non-invasive genetic test as early as seven weeks into a pregnancy, according to a new meta-analysis published this week in the Journal of the American Medical Association. The results of the NIH-funded analysis have important implications for early diagnosis of genetic diseases linked to genes on the X chromosome, since those diseases only affect males. The study was supported by the National Human Genome Research Institute.

May 23, 2011: Human Microbiome Project Data Available to Research CommunityFrom the University of Maryland School of Medicine: The Human Microbiome Project (HMP), funded through the National Institutes of Health Common Fund's Roadmap for Medical Research, is now releasing reads and assembled sequences from whole metagenome shotgun sequencing of 690 microbiomes and about 72 million reads from targeted 16S sequencing of 5034 microbiomes from healthy human subjects for use by the scientific community via the HMP Data Analysis and Coordination Center, which is located at the Institute for Genome Sciences (IGS) at the University of Maryland School of Medicine.

May 19, 2011: New Zealand Pharmaceuticals Announces Collaboration with the NHGRI to Develop DEX-M74 as a Treatment for Hereditary Inclusion Body Myopathy (HIBM)From New Zealand Pharmaceuticals Ltd: New Zealand Pharmaceuticals Ltd (NZP), announced today that it has entered into a collaboration with the National Human Genome Research Institute (NHGRI), part of the U.S. National Institutes of Health (NIH) located in Bethesda, Md., to take the investigational Hereditary Inclusion Body Myopathy (HIBM) therapeutic, DEX-M74, through pre-clinical development followed by initial clinical trials with HIBM patients lead by NHGRI's William Gahl M.D., Ph.D. Two other NIH groups will contribute to the research, including the NIH Therapeutics for Rare and Neglected Diseases (TRND) program and the NIH Clinical Center.

April 20, 2011: Decoding cancer patients' genomes is powerful diagnostic toolFrom Washington University in St. Louis: Two new studies highlight the power of sequencing cancer patients' genomes as a diagnostic tool, helping doctors decide the best course of treatment and researchers identify new cancer susceptibility mutations that can be passed from parent to child. Both studies, by researchers at Washington University School of Medicine in St. Louis - and supported in part by NHGRI - are reported April 20 in the Journal of the American Medical Association.

April 8, 2011: Genetic variants associated with caffeine intake identifiedFrom Brigham and Women's Hospital:Two genes in which variation affects intake of caffeine, the most widely consumed stimulant in the world, have been discovered. A team of investigators, including Daniel Chasman from the Division of Preventive Medicine at Brigham and Women's Hospital, and researchers from the National Cancer Institute, Harvard School of Public Health and the University of North Carolina at Chapel Hill examined genetic variation across the entire genome of more than 47,000 individuals from the Women's Genome Health Study. The findings appear in the April 7, 2011 issue of the open-access journal PLoS Genetics. NHGRI helped fund the research.

April 3, 2011: Penn-Led Alzheimer's Disease Consortium Identifies Four New Genes for Alzheimer's Disease RiskFrom the University of Pennsylvania: In the largest study of its kind, researchers from a consortium led by the University of Pennsylvania School of Medicine, the University of Miami, and the Boston University School of Medicine, identified four new genes linked to Alzheimer's disease. Each gene individually adds to the risk of having this common form of dementia later in life. These new genes offer a portal into what causes Alzheimer's disease and is a major advance in the field. The research was funded in part by NHGRI. The study is published in the April 3, 2011 advanced online publication of Nature Genetics.

March 23, 2011: Epigenomic findings illuminate veiled variantsFrom the Broad Institute: Using a new mapping strategy, a collaborative team led by researchers at the Broad Institute of MIT and Harvard, Massachusetts General Hospital (MGH), and MIT has begun to assign meaning to the regions beyond our genes and has revealed how minute changes in these regions might be connected to common diseases. The researchers' findings appear in the March 23 advance online issue of Nature. The research was supported by the National Human Genome Research Institute under an ENCODE grant.

February 22, 2011: Trichinosis parasite gets DNA decodedFrom the Washington University in St. Louis: Scientists have decoded the DNA of the parasitic worm that causes trichinosis, a disease linked to eating raw or undercooked pork or carnivorous wild game animals, such as bear and walrus.After analyzing the genome, investigators at Washington University School of Medicine in St. Louis and their collaborators report they have identified unique features of the parasite, Trichinella spiralis, which provide potential targets for new drugs to fight the illness. The research is published online Feb. 20 in Nature Genetics.

2010

December 22, 2010: Learning to Read the GenomeFrom the Lawrence Berkeley National Laboratory: Genetic information carried by DNA and RNA operates together with the patterns and physical organization of chromosomes to produce a working organism. Major advances in understanding these complex relationships are published this week by the "model organism Encyclopedia of DNA Elements" (modENCODE) project, funded by the National Institutes of Health's National Human Genome Research Institute. These new insights into reading the genome apply not only to the fruit fly Drosophila melanogaster and the roundworm Caenorhabditis elegans, modENCODE's two model organisms, but will apply to human beings and many other organisms as well.

December 20, 2010: New Tools Available for Genetics Research From the Research Triangle Park, N.C.: RTI International releases a new version of a free online "toolkit" to help genetics researchers consistently measure and report physical traits and environmental exposures.The toolkit, called PhenX (a combination of Phenotype and eXposures), provides nearly 300 standard measures and protocols across 21 different research areas. These measures are intended for use in genome wide association and other large-scale research studies. The toolkit is funded by the National Human Genome Research Institute.

November 30, 2010: Genome 10K project announces first 101 species for genome sequencingFrom the University of California Santa Cruz: The Genome 10K Community of Scientists and BGI (formerly the Beijing Genomics Institute) of Shenzhen, China, announce a plan to sequence the genomes of 101 vertebrate species within the next two years, the first of an eventual 10,000 species to be sequenced by the Genome 10K Project.The Genome 10K Project (G10K) is an international effort to gather specimens of thousands of animals from zoos, museums, and university collections throughout the world, and then sequence the genome of each species to reveal its complete genetic heritage.

November 17, 2010: AesRx announces collaboration with NIH to develop Aes-103 for sickle cell diseaseFrom AesRx, LLC: AesRx, LLC, announces that it has entered into a collaboration with the National Institutes of Health (NIH) to take AesRx's investigational sickle cell therapeutic, Aes-103, through pre-clinical development and initial clinical trials, including two trials in sickle cell patients. Several NIH components will contribute to the research, including the NIH Therapeutics for Rare and Neglected Diseases (TRND) program, an affiliated program with the National Human Genome Research Institute; the NIH Clinical Center; and the National Heart, Lung, and Blood Institute (NHLBI).

November 5, 2010: President honors outstanding early-career scientistsFrom the White House: President Obama names 85 researchers as recipients of the Presidential Early Career Awards for Scientists and Engineers, the highest honor bestowed by the United States government on science and engineering professionals in the early stages of their independent research careers. The Presidential early career awards embody the high priority the Obama Administration places on producing outstanding scientists and engineers to advance the Nation's goals, tackle grand challenges, and contribute to the American economy. NHGRI's Charles P. Venditti, M.D., Ph.D. was honored.

October 22, 2010: Malarial mosquitoes are evolving into new species, say Imperial researchers From Imperial College London: Two strains of the type of mosquito responsible for the majority of malaria transmission in Africa have evolved such substantial genetic differences that they are becoming different species, according to researchers behind two new studies published today in the journal Science. NHGRI helped fund the research.

October 10, 2010: Apple-shaped or pear-shaped, it's partly down to your genesFrom Oxford University: An international team of scientists, including researchers from NHGRI's Genome Technology Branch, have identified 13 regions of genetic variation associated with body fat distribution, and 18 regions of genetic variation associated with increased susceptibility to obesity. The consortium describes their findings in the Oct. 10, 2010 online publication of the journal Nature Genetics.

September 27, 2010: Nanopore system measures and controls DNA replicationFrom the University of California at Santa Cruz: Research by Mark Akeson, professor and chair of biomolecular engineering, and his colleagues in the Baskin School of Engineering at UC Santa Cruz shows a new method of enzyme-controlled movement of a single strand of DNA through a protein nanopore. The findings, published in Nature Nanotechnology, represent a key step toward nanopore sequencing of DNA strands.

September 9, 2010: Graphene may hold key to speeding up DNA sequencing From Harvard School of Engineering and Applied Sciences: In a paper published as the cover story of the September 9, 2010 Nature, researchers from Harvard University and MIT have demonstrated that graphene, a surprisingly robust planar sheet of carbon just one-atom thick, can act as an artificial membrane separating two liquid reservoirs.

September 7, 2010: NIH expands network focused on how genes affect drug responsesFrom the National Institutes of Health: The National Institutes of Health plans to spend $161.3 million over the next five years to expand the Pharmacogenomics Research Network (PGRN), a nationwide collaborative of scientists focused on understanding how genes affect a person's response to medicines.

August 4, 2010: NIH Genomic Mapping Study Finds Largest Set of Genes Related to Major Risk Factor for Heart DiseaseFrom the National Institutes of Health: Scanning the genomes of more than 100,000 people from all over the world, scientists report the largest set of genes discovered underlying high cholesterol and high triglycerides - the major risk factors for coronary heart disease, the nation's number one killer. Taken together, the gene variants explain between a quarter and a third of the inherited portions of cholesterol and triglyceride measured in the blood. The research, representing scientists from 17 countries and funded in part by NHGRI, appears in two papers in the Aug. 5 issue of Nature.

July 19, 2010: EPA and Other Federal Agencies Collaborate to Improve Chemical ScreeningFrom the Environmental Protection Agency: The U.S. Environmental Protection Agency, the National Institute of Environmental Health Sciences National Toxicology Program and the National Institute of Health Chemical Genomics Center - an NHGRI affiliated center - welcome the U.S. Food and Drug Administration (FDA) to the Tox21 collaboration, of which they are all members. The Tox21 collaboration merges federal agency resources to develop ways to more effectively predict how chemicals will affect human health and the environment.

June 21, 2010: 1000 Genomes Project Releases Data from Pilot Projects on Path to Providing Database for 2,500 Human GenomesFrom The Wellcome Trust Sanger Institute: The 1000 Genomes Project, an international public-private consortium to build the most detailed map of human genetic variation to date, announces the completion of three pilot projects and the deposition of the final resulting data in freely available public databases for use by the research community. In addition, work has begun on the full-scale effort to build a public database containing information from the genomes of 2,500 people from 27 populations around the world. NHGRI provided major funding to the project.

May 31, 2010: Powerful Genome Barcoding System Reveals Large-scale Variation in Human DNAFrom the University of Wisconsin-Madison: Variation on the order of thousands to hundreds of thousands of DNA's smallest pieces - large swaths varying in length or location or even showing up in reverse order - appeared 4,205 times in a comparison of DNA from just four people, according to a study published May 31 in the Proceedings of the National Academy of Sciences. Those structural differences popped into clear view through computer analysis of more than 500 linear feet of DNA molecules analyzed by the powerful genome mapping system developed at UW-Madison. NHGRI helped fund the study.

May 6, 2010: The Neanderthal in UsFrom The Max Planck Institute for Evolutionary Anthropology: The first genome sequence from an extinct human relative is now available. Together with an international research team, researchers at the Max Planck Institute for Evolutionary Anthropology in Leipzig present an initial draft of the genome sequence of the Neandertal, a human form which died out some 30,000 years ago. Initial analyses of four billion base pairs of Neandertal DNA indicate that Neandertals left their mark in the genomes of some modern humans.

May 6, 2010: Neanderthal Genome Yields Insights Into Human Evolution and Evidence of InterbreedingFrom The University of California, Santa Cruz: After extracting ancient DNA from the 40,000-year-old bones of Neanderthals, scientists have obtained a draft sequence of the Neanderthal genome, yielding important new insights into the evolution of modern humans. Among the findings, published in the May 7 issue of Science, is evidence that shortly after early modern humans migrated out of Africa, some of them interbred with Neanderthals, leaving bits of Neanderthal DNA sequences scattered through the genomes of present-day non-Africans.

May 3, 2010: Study Provides New Leads into Genetics of Cleft Lip and/or PalateFrom The National Institutes of Health: A consortium of scientists - including researchers from NHGRI - report identifying two human genes that, when inherited in a slightly altered form, may play a role in causing cleft lip and/or palate (roof of the mouth), one of the world's most common congenital malformations. The finding, published online by the journal Nature Genetics, is unique in the study of congenital malformations because of how the discoveries were made. They come from the largest genome-wide association, or GWA, study to date on cleft lip and/or palate.

April 29, 2010: Scientists Report First Genome Sequence of FrogFrom The University of California, Berkeley: A team of scientists led by the Department of Energy's Joint Genome Institute and the University of California, Berkeley, has published the first genome sequence of an amphibian, the African clawed frog Xenopus tropicalis, filling in a major gap among the vertebrates sequenced to date. The high-quality draft sequence of the genome of X. tropicalis, often called the Western clawed frog, will also aid researchers who now use the frog's more popular cousin, Xenopus laevis, to study embryo development and cell biology. NHGRI helped fund the research.

April 23, 2010: Community Genetics Forum To Bring Ethnic Groups, U of U, NIH Experts TogetherFrom The University of Utah Health Center: Hundreds of members from the state's diverse ethnic groups will meet with University of Utah and National Institutes of Health (NIH) genetics and disease experts for a Community Genetics and Health Forum on April 30 and May 1. Sponsored by the NIH's National Human Genome Research Institute (NHGRI), the forum brings together members of Utah's African American, African refugee, Chinese, Hispanic/Latino, Native American, and Tongan communities to discuss the relationship between genetics and three chronic diseases of pressing importance to those ethnic populations: heart disease, cancer and diabetes.

April 16, 2010: Molecular Discovery Points to New Therapies for Brain TumorsFrom The University of Texas M. D. Anderson Cancer Center: A class of brain tumor that tends to emerge in younger patients but is less aggressive than others can be identified by examining DNA methylation of a specific set of genes, scientists at The University of Texas M. D. Anderson Cancer Center and colleagues with The Cancer Genome Atlas report online at Cancer Cell. Scientists from The Cancer Genome Atlas, a joint initiative of the National Cancer Institute and the National Human Genome Research Institute to increase understanding of cancer genetics, took part in the research.

April 15, 2010: International Cancer Genome Consortium plans to sequence 25,000 cancer genomes From The International Cancer Genome Consortium: In a paper published in the journal Nature, the International Cancer Genome Consortium sets out its bold plan to decode the genomes from 25,000 cancer samples and create a resource of freely available data that will help cancer researchers around the world. The effort includes work being done by The Cancer Genome Atlas, which is jointly funded by the National Cancer Institute and NHGRI.

March 18, 2010: NIH Announces Genetic Testing RegistryFrom the National Institutes of Health: The National Institutes of Health announces that it is creating a public database that researchers, consumers, health care providers, and others can search for information submitted voluntarily by genetic test providers. The Genetic Testing Registry (GTR) aims to enhance access to information about the availability, validity and usefulness of genetic tests.

March 18, 2010: Genome of the Fresh Water Polyp Hydra SequencedFrom Ludwig-Maximilians-Universität (LMU) in Munich : The genome of the fresh water polyp Hydra, which has played a key role as a model organism in modern evolutionary and developmental biology, has been sequenced by an international consortium of American, German, Austrian and Japanese scientists. The genome sequence provides a glimpse into the common evolutionary history of animals and humans. Scientists at the Ludwig-Maximilians-Universität (LMU) in Munich, and universities in Kiel, Heidelberg, Vienna and Innsbruck contributed to the project, which was published online in Nature on March 14, 2010. NHGRI helped fund the research.

March 17, 2010: Dogs Likely Originated in the Middle East, New Genetic Data IndicateFrom the University of California at Los Angeles: Dogs likely originated in the Middle East, not Asia or Europe, according to a new genetic analysis by an international team of scientists led by UCLA biologists. The research, funded by the National Science Foundation and the Searle Scholars Program, appeared March 17 in the advance online edition of the journal Nature. Among the co-authors on the Nature paper are a group of researchers from the National Human Genome Research Institute led by Senior Investigator Elaine Ostrander, Ph.D.

February 25, 2010: Whole Genome Analysis Solves Medical Mystery in One Family, Comes Nearer to Routine UseFrom the National Institute of Neurological Disorders and Stroke: For the first time, researchers use whole genome sequencing to achieve a molecular diagnosis in a family with a genetic disorder. The results suggest that in the near future, genome sequencing could become a routine part of medical care, both to diagnose rare disorders and help estimate the risk of common disorders. The effort was led by investigators at Baylor College of Medicine Houston, Texas, and funded in part by NHGRI.

February 25, 2010: Emerging Science, Tech Advances Highlight New NIH Common Fund ProgramsFrom the National Institutes of Health: Programs to create a new center for the study of stem cells and to increase capacity to deal with global health issues were among seven scientific initiatives announced today by NIH Director Francis S. Collins, M.D., Ph.D. The seven research programs are supported through the NIH Common Fund, which encourages collaborative research programs across the NIH institutes and centers, or ICs, to accomplish work that no single IC could do alone. The programs are all scheduled to begin during fiscal year 2010. NHGRI will be co-administering some of the projects.

February 24, 2010: Surgeon General with Microsoft HealthVault Expands Consumer Benefits for the My Family Health Portrait OfferingFrom the U.S. Department of Health and Human Services: The U.S. Surgeon General Regina M. Benjamin announce a collaboration with Microsoft HealthVault that will provide new features and expand access to My Family Health Portrait, a free Internet-based tool for organizing family health history. The National Human Genome Research Institute created the original version of the tool and was among the federal agencies that supported its upgrade.

February 23, 2010: Aphid's Genome Reflects Its Reproductive, Symbiotic LifestyleFrom Baylor College of Medicine: The genome of the pea aphid, has been sequenced by the International Aphid Genomics Consortium. Dr. Stephen Richards, assistant professor in the Baylor College of Medicine Human Genome Sequencing Center is the leader of the sequencing effort. The consortium released the 464 megabase draft genome of the pea aphid (Acyrthosiphon pisum) in the current issue of PLoS Biology. The aphid sequencing was funded by NHGRI.

February 21, 2010: From Uncharted Region of Human Genome, Clues Emerge About Origins of Coronary Artery DiseaseFrom the U.S. Department of Energy's Lawrence Berkeley National Laboratory: Researchers have figured out how a mysterious DNA region previously tied to heart disease may exert its effect, opening the door to new prevention and treatment strategies. The study, partly funded by NIH's National Heart, Lung and Blood Institute and National Human Genome Research Institute, appeared in the advance online edition of Nature on Feb. 21, 2010.

February 18, 2010: Scientists Map Genetic Regulatory Elements for the HeartFrom the National Institutes of Health: Scientists devise a new computational model that can be used to reveal genetic regulatory elements responsible for development of the human heart and maintenance of its function. The research, conducted by scientists at the National Institutes of Health's National Center for Biotechnology Information (NCBI) and the University of Chicago, is published in the March 2010 issue of Genome Research and is available online. The University of Chicago research was co-funded by NHLBI and the National Human Genome Research Institute at NIH.

February 2, 2010: Scientists Map Out Regulatory Regions of Genome, Hot Spots for Diabetes GenesFrom the University of North Carolina School of Medicine: Together with colleagues in Barcelona, researchers at the University of North Carolina at Chapel Hill have generated a complete map of the areas of the genome that control which genes are "turned on" or "off." The research, published online Jan. 31, 2010, in the journal Nature Genetics, presents the first high-resolution atlas of these regulatory elements in the most studied cell type for treatment and prevention of type II diabetes. The discovery, made in pancreatic islet cells, opens new avenues for understanding the genetic basis of type 2 diabetes and other common illnesses. The research was funded by NHGRI as part of its ENCODE project.

February 1, 2010: Benefits Outweigh Risks Associated with Newborn Screening for DisorderFrom the University of Michigan: Newborn screening for a metabolic disorder could lead to false positives - adding stress to parents, costing money and possibly subjecting a baby to unnecessary follow-up treatment and dietary restrictions. But the benefits of diagnosing these children early and preventing the risk of mental retardation, disability or death outweigh the costs of a false positive, according to new U-M research published in the February issue of the journal Pediatrics. Funding for this study was provided by the National Human Genome Research Institute, Division of Ethical, Legal and Social Implications.

January 20, 2010: New Gene Discovered for Recessive Form of Brittle Bone DiseaseFrom the Eunice Kennedy Shriver National Institute of Child Health and Human Development: Researchers at the National Institutes of Health and other institutions discover the third in a sequence of genes that accounts for previously unexplained forms of osteogenesis imperfecta (OI), a genetic condition that weakens bones, results in frequent fractures and is sometimes fatal. Researchers at the National Human Genome Research Institute also took part in the study.

January 15, 2010: Parasitic Wasps' Newly Sequenced Genomes Reveal New Avenues for Pest Control, Provides Insights into Evolution, GeneticsFrom the University of Rochester: Parasitic wasps kill pest insects, but their existence is largely unknown to the public. Now, scientists led by John H. Werren, professor of biology at the University of Rochester, and Stephen Richards at the Genome Sequencing Center at the Baylor College of Medicine have sequenced the genomes of three parasitoid wasp species, revealing many features that could be useful to pest control and medicine, and to enhance our understanding of genetics and evolution. NHGRI helped fund the research. The study appears in the January 15 issue of Science.

January 13, 2010: Chimp and Human Y Chromosomes Evolving Faster Than ExpectedFrom the Massachusetts Institute of Technology: By conducting the first comprehensive interspecies comparison of Y chromosomes, Whitehead Institute researchers find considerable differences in the genetic sequences of the human and chimpanzee Ys - an indication that these chromosomes have evolved more quickly than the rest of their respective genomes over the 6 million years since they emerged from a common ancestor. The findings are published online this week in the journal Nature. NHGRI provided support for this work.

January 7, 2010: Gene Mutations Reveal Potential New Targets for Treating a Type of Non-Hodgkin's LymphomaFrom the National Cancer Institute: Researchers discover genetic mutations that may contribute to the development of an aggressive form of non-Hodgkin's lymphoma. These findings provide insight into a mechanism that cancer cells may use to survive, thus identifying potential new targets for treatment of the disease. The study conducted by researchers at the National Cancer Institute (NCI), the National Institute for Allergy and Infectious Diseases, and the National Human Genome Research Institute, components of the National Institutes of Health, and colleagues appeared Jan. 7, 2010, in Nature.

2009

December 23, 2009: A Novel Gene Found for Childhood-Onset Asthma; Gene's Role in Immune System May Suggest New TreatmentsFrom the Children's Hospital of Philadelphia: Pediatric researchers identify a novel gene involved in childhood asthma, in one of the largest gene studies to date of the common respiratory disease. Because the gene, called DENND1B, affects cells and signaling molecules thought to be instrumental in the immune system overreaction that occurs in asthma, the discovery may have singled out an important target for new treatments. The National Human Genome Research Institute supported the research.

December 21, 2009: New Nanopore Technique Facilitates Faster, Cheaper Genome AnalysesFrom Boston University: Researchers devise a method that advances the prospects for efficiently analyzing DNA samples without amplification. In a study published in the Dec. 20 online edition of Nature Nanotechnology, Associate Professor Amit Meller (BME, Physics), BME postdoctoral fellow Meni Wanunu, BU physics student Will Morrison and collaborators at New York University and Bar-Ilan University demonstrated a method to tune solid-state nanopores - tiny, nearly cylindrical, silicon nitride sensors that electronically detect DNA molecules as they pass through the pore - to require far fewer DNA molecules than ever before. The research was funded in part by NHGRI.

December 11, 2009: Princeton Scientists Find Way to Catalog All That Goes Wrong in a Cancer CellFrom Princeton University: A team of Princeton University scientists produce a systematic listing of the ways a particular cancerous cell has "gone wrong," giving researchers a powerful tool that eventually could make possible new, more targeted therapies for patients. The research was funded by the National Human Genome Research Institute.

November 30, 2009: Researchers Identify Proteins in Lung Cancer Cells That May Provide Potential Drug TargetsFrom Boston University School of Medicine: Researchers from Boston University School of Medicine (BUSM) and the Boston University Biomedical Engineering Department identify a number of proteins whose activation allows them to distinguish between cancer and normal cells with almost 97 percent accuracy. In addition, the BU researchers have developed a new computational strategy to analyze this data and specifically identify key biological pathways (molecular circuits) that are active in cancer and "dormant" in normal cells. NHGRI helped fund the research.

November 24, 2009: For the First Time, Scientists Discover Causative Gene of a Rare Disorder by Sequencing All Protein-Coding Regions of the GenomeFrom the University of Washington: For the first time, scientists use a method called exome sequencing to quickly discover a previously unknown gene responsible for a mendelian disorder. Mendelian disorders, such as cystic fibrosis and sickle cell disease, are the result of one or more mutations in a single gene, typically a gene that makes a protein. All of the regions that code for proteins taken together are called the exome. The study, "Exome sequencing identifies the cause of a mendelian disorder," was led by University of Washington (UW) researchers and published Nov. 13, in Nature Genetics. The research was funded in part by NHGRI.

November 4, 2009: Scientists Propose a "Genome Zoo" of 10,000 Vertebrate SpeciesFrom the University of California at Santa Cruz: In the most comprehensive study of animal evolution ever attempted, an international consortium of scientists plans to assemble a genomic zoo - a collection of DNA sequences for 10,000 vertebrate species, approximately one for every vertebrate genus. Using a workshop to organize their ideas, the group proposed The 10K Genomes Project in a paper published Nov. 5, 2009 in the Journal of Heredity. Co-authors include NHGRI's Eric Green M.D., Ph.D. and Adam Felsenfeld, Ph.D.

October 21, 2009: Gene Duplication Identified in an Uncommon Form of Bone CancerFrom the National Cancer Institute: Scientists discover that a familial form of a rare bone cancer called chordoma is explained not by typical types of changes or mutations in the sequence of DNA in a gene, but rather by the presence of a second copy of an entire gene. The findings appeared online Oct. 4, 2009, in Nature Genetics and was done by researchers at the National Cancer Institute (NCI), part of the National Institutes of Health, and their colleagues. NHGRI researcher David Ng co-authored the study.

Related NCI Cancer Bulletin Special Report

October 20, 2009: Scientists Decipher the 3-D Structure of the Human GenomeFrom Harvard University: Scientists decipher the three-dimensional structure of the human genome, paving the way for new insights into genomic function and expanding our understanding of how cellular DNA folds at scales that dwarf the double helix. A paper, featured this week on the cover of the journal Science, they describe a new technology called Hi-C and apply it to answer the thorny question of how each of our cells stows some three billion base pairs of DNA while maintaining access to functionally crucial segments. NHGRI was a supporter of the research.

October 14, 2009: NIH Awards New Grants to Build Capacity in Informatics in Global HealthFrom the National Insitutes of Health: The Fogarty International Center, part of the National Institutes of Health, announces it will award more than $9.23 million to eight global health informatics programs over the next five years. Fogarty's Informatics Training for Global Health program is intended to increase informatics expertise in low- and middle-income countries by training scientists to design information systems and apply computer-supported management and analysis to biomedical research. NHGRI particpated as an NIH funding partner.

October 13, 2009: Scientists Use Mathematical Modeling to Correctly Predict Previously Unknown Biological Mechanism of RegulationFrom The University of Texas at Austin: A team of scientists, led by a biomedical engineer at The University of Texas at Austin, demonstrate - for the first time - that mathematical models created from data obtained by a recently developed technology called DNA microarrays, can be used to correctly predict previously unknown cellular mechanisms. This brings biologists a step closer to one day being able to understand and control the inner workings of the cell as readily as NASA engineers plot the trajectories of spacecraft today. NHGRI helped fund the research.

September 29, 2009: Paul Marks Prize Recognizes 3 Young Cancer ResearchersFrom Memorial Sloan-Kettering Cancer Center: Three young investigators who have taken significant steps toward advancing the understanding of cancer receive the 2009 Paul Marks Prize for Cancer Research, a prize awarded biennially since 2001 to scientists under the age of forty-six by Memorial Sloan-Kettering Cancer Center. One of the awardees is also a leader in the Cancer Genome Atlas project, which is co-administered by the National Cancer Institute and NHGRI.

September 24, 2009: Scientists in Major Prostate Cancer Gene DiscoveryFrom the Institute of Cancer Research: Scientists discover nine new sites in the human genome that have variants that can increase a man's risk of developing prostate cancer by three fold. Their findings were published in two papers in Nature Genetics. NHGRI's Cancer Genetics Branch Chief Elaine Ostrander, Ph.D., and researchers at her lab were co-authors on the study.

September 18, 2009: President Honors Nation's Top Scientists and InnovatorsFrom the White House: President Obama names nine eminent researchers as recipients of the National Medal of Science, and four inventors and one company as recipients of the National Medal of Technology and Innovation, the highest honors bestowed by the United States government on scientists, engineers and inventors. Dr. Francis Collins, former director of NHGRI and the current director of the National Institutes of Health, is among the nine researchers honored.

September 7, 2009: Scientists Identify Two Gene Variants Associated with Alzheimer's RiskFrom the National Institutes of Health: In the largest genome-wide association study (GWAS) reported to date involving Alzheimer's disease, scientists identify two new possible genetic risk factors for late-onset Alzheimer's, the most common form of the disease. The study,which pooled DNA samples from a number of European and U.S. groups, not only associated variations in the sequence of the CLU and PICALM genes with increased risk, but also found another 13 gene variants that merit further investigation, according to findings presented in the September 6, 2009, online issue of Nature Genetics. NHGRI was among several institutions that provided support for the collection of samples.

August 25, 2009: CSHL Scientists Develop New Method to Detect Copy Number Variants Using DNA Sequencing TechnologiesFrom Cold Spring Harbor Laboratory: A research team led by Associate Professor Jonathan Sebat, Ph.D., of Cold Spring Harbor Laboratory (CSHL) develops a sensitive and accurate way of identifying gene copy number variations (CNVs). The method, which is described in a paper published online ahead of print in Genome Research, uses new DNA sequencing technologies to look for regions of the genome that vary in copy number between individuals in the population. The research was funded by NHGRI.

August 11, 2009: New Class of Compounds Discovered for Potential Alzheimer's Disease Drug, Penn Study FindsFrom the University of Pennsylvania School of Medicine: A new class of molecules capable of blocking the formation of specific protein clumps that are believed to contribute to the dementia of Alzheimer's disease (AD) patients is discovered by researchers at the University of Pennsylvania School of Medicine and the National Institutes of Health (NIH) Chemical Genomics Center (NCGC). By assaying close to 300,000 compounds, the team has identified drug-like inhibitors of AD tau protein clumping, as reported in the journal Biochemistry. The research was funded in part by NHGRI.

August 6, 2009: Decoding Leukemia Patient Genome Leads Scientists to Mutations in Other PatientsFrom Washington University in St. Louis: Decoding the complete DNA of cancer patients is giving scientists at Washington University School of Medicine in St. Louis a clearer picture of the complexity of the disease, allowing them to see intriguing and unexpected genetic relationships among patients. The research - funded in part by NHGRI - is reported online in the August 5 New England Journal of Medicine.

August 5, 2009: African Village Dogs Are Genetically Much More Diverse Than Modern Breeds, Study FindsFrom Cornell University: African village dogs are not a mixture of modern breeds but have directly descended from an ancestral pool of indigenous dogs, according to a Cornell-led genetic analysis of hundreds of semi-feral village dogs. Co-authors of the study, published online Aug. 3 in the Proceedings of the National Academy of Sciences, included Elaine Ostrander, Ph.D., and Heidi Parker, Ph.D., both geneticists at NHGRI.

July 21, 2009: Linc RNAs Serve as Genetic Air-Traffic ControllersFrom Beth Israel Deaconess Medical Center: A scientific team from Beth Israel Deaconess Medical Center and the Broad Institute have identified a class of RNA genes known as large intervening non-coding RNAs or "lincRNAs," a discovery that has pushed the field forward in understanding the roles of these molecules in many biological processes, including stem cell pluripotency, cell cycle regulation, and the innate immune response. The research - published in the July 14th issue of the Proceedings of the National Academy of Sciences - was funded in part by the National Human Genome Research Institute.

July 16, 2009: Disclosing Genetic Risk for Alzheimer's Disease Does Not Cause Psychological DistressFrom Boston University School of Medicine: Researchers from Boston University School of Medicine show that disclosing genetic risk information to adult children of patients with Alzheimer's disease who request this information does not result in significant short-term psychological distress. The report from the REVEAL Study appears in the July 16 issue of the New England Journal of Medicine. Funding for the study was provided by the Ethical, Legal and Social Implications Branch of the National Human Genome Research Institute.

July 15, 2009: Stealthy Gene Network Makes Brain Tumors FlourishFrom Northwestern University: Glioblastoma, the most aggressive form of brain cancer, has foiled researchers' decades-long efforts to thwart its explosive growth in the brain. But scientists from Northwestern University Feinberg School of Medicine, using data from the The Cancer Genome Atlas funded by NHGRI and NCI, have now discovered the formidable tumor's soft underbelly. They have identified a network of 31 mutated genes that stealthily work together to create the perfect molecular landscape to allow the tumor to flourish and mushroom to the size of an apple in just a few months.

June 30, 2009: Possible Benefit from Online Genetic Testing in Lung CancerFrom the American Association for Cancer Research: As scientists continue to decode the human genome and the information becomes publicly available, private companies that offer online genetic testing are multiplying. Scientists at the National Institutes of Health were concerned that perhaps these tests posed a risk.

June 5, 2009: Buffalo to Host Major International Conference on Biomedical Ontology in JulyFrom the University of Buffalo: How medical personnel and their digital systems talk to one another in a meaningful way is important to the health of the patients about whom they "converse." A vast array of philosophers, biomedical researchers and informatics scientists will address this problem July 24-26 at The International Conference on Biomedical Ontology, hosted by the University of Buffalo. The conference is largely funded by the National Human Genome Research Institute.

June 4, 2009: Scientists Discover New Genetic Immune Disorder in ChildrenFrom the National Institutes of Health: An international team of researchers, including NHGRI's Marjan Huizing, Ph.D., report the discovery of a new autoinflammatory syndrome, a rare genetic condition that affects children around the time of birth. The findings appear in the June 4, 2009 issue of the New England Journal of Medicine.

May 27, 2009: Meet the Complete Mouse - Whole Mouse Genome Sequence Published From Public Library of Science (PLoS) Biology: Are you a man or a mouse? A new paper, published in this week's issue of PLoS Biology, explores exactly what distinguishes our genome from that of the lab mouse. The research was funded by genome sequencing grants from the National Human Genome Research Institute.

May 18, 2009: Researchers Gain Fine-Scale, Genome-Wide Insights into Patterns of Human Population Structures Around the WorldFrom the University of Washington: Through sophisticated statistical analyses and advanced computer simulations, researchers are learning more about the genomic patterns of human population structure around the world. Revealing such patterns provides insights into the history of human evolution, the predominant evolutionary forces that shaped local populations, and the relationships among populations. A National Human Genome Research Institute Interdisciplinary Training in Genomic Sciences grant supported this Akey laboratory research.

May 14, 2009: Georgetown Research: Mothers Satisfied When They Share Cancer Genetic Test Results with ChildrenFrom Georgetown University Medical Center: In a study funded by NHGRI's Ethical, Legal and Social Implications (ELSI) Research Program, researchers at the Lombardi Comprehensive Cancer Center report that mothers who made the decision to disclose their cancer genetic test results with their children were more satisfied than those who decided not to disclose their results. The researchers also report that mothers who disclosed the test results to their children experienced a more open parent-child communication relationship.

May 10, 2009: Eight New Blood Pressure Genes DiscoveredFrom Imperial College of London: Eight common genetic variations that influence blood pressure have been identified in a new study from the Global Blood Pressure Genetics (BPGen) consortium, which includes scientists from NHGRI's Genome Technology Branch.

April 15, 2009: Brown Researchers Create Novel Technique to Sequence Human GenomeFrom Brown University: Physicists at Brown University develop a novel procedure to map a person's genome. They report in the journal Nanotechnology the first experiment to move a DNA chain through a nanopore using magnets. The approach is promising because it allows multiple segments of a DNA strand to be read simultaneously and accurately.

April 15, 2009: Researchers Identify Specific Lung Cancer Susceptibility GeneFrom the University of Cincinnati: University of Cincinnati cancer cell biologists identify a distinct gene linked to increased lung cancer susceptibility and development. They say this gene-known as RGS17-could result in a genetic predisposition to develop lung cancer for people with a strong family history of the disease. Funding for this research comes from the National Institutes of Health through the Genetic Epidemiology of Lung Cancer Consortium, a group that includes NHGRI Senior Investigator Joan Baily-Wilson, Ph.D.

April 8, 2009: Bioinformatics, Zebrafish At Focus During Cancer Control MonthFrom Medical News Today: April marks National Cancer Control Awareness Month, which focuses on the importance of prevention, treatment and research. Making significant contributions in all of these areas is The Cancer Institute of New Jersey (CINJ), which is one of the nation's 40 Comprehensive Cancer Centers as designated by the National Cancer Institute and the only such center in New Jersey. Along with researchers at the National Human Genome Research Institute, a collaborative effort is underway to study the regulation of gene expression in early leukemia development using zebrafish.

March 31, 2009: Cancer Genomics Browser gives cancer researchers a powerful new toolFrom University of California, Santa Cruz: A Cancer Genomics Browser developed by researchers at the University of California, Santa Cruz (UCSC), provides a new way to visualize and analyze data from studies aimed at improving cancer treatment by unraveling the complex genetic roots of the disease. In developing this browser, UCSC used data generated by The Cancer Genome Atlas, which is supported by the National Human Genome Research Institute and the National Cancer Institute.

The following two news releases about the discovery of genetic variants related to sudden cardiac death, pertain to research supported in part by NHGRI.

March 23, 2009: Ten genes identified in connection with sudden cardiac deathFrom University of Michigan: Irregular heart rhythms are a common cause of sudden cardiac death or SCD, a condition that accounts for 450,000 deaths annually in the United States. Scientists are now closer to understanding what causes SCD and who it may strike, said Gonçalo Abecasis, associate professor of biostatistics at the University of Michigan School of Public Health. Abecasis co-led on an international study, published in the March 22 edition of Nature Genetics, that aimed to identify genetic defects associated with sudden cardiac death.

March 22, 2009: Hopkins Scientists ID 10 Genes Associated with a Risk Factor for Sudden Cardiac DeathFrom Johns Hopkins University School of Medicine: Sudden cardiac death, which annually claims more than a quarter million Americans, has a dearth of discernable symptoms and a lack of detectable molecules circulating in the blood, making the prediction of sudden cardiac death largely dependent on genetic risk factors. Johns Hopkins researchers, in collaboration with an international contingent of researchers, have identified 10 common variants of genes that modify the timing of the contraction of the heart, known as the QT interval. The study, published March 22 in Nature Genetics, provides new insight about the underpinnings of the QT interval which, when prolonged or shortened, predisposes to sudden cardiac death.

March 19, 2009: What's driving specific patterns of gene expression among cell types?From University of California - San Diego: Providing another tool to help to understand gene regulation on a global scale, a nationwide research team has identified and mapped 55,000 enhancers, short regions of DNA that act to enhance or boost the expression of genes. The map, which was published March 18 in the advance on-line edition of the journal Nature, will help scientists understand how cells control expression of genes specific to their particular cell type. Funding for this research was provided in part by the National Human Genome Research Institute.

February 25, 2009: Predicting risk of stroke from one's genetic blueprintFrom Children's Hospital Boston: A new statistical model could be used to predict an individual's lifetime risk of stroke, finds a study from the Children's Hospital Informatics Program (CHIP). Using genetic information from 569 hospital patients, the researchers showed that their predictive model could estimate an individual's overall risk of cardioembolic stroke - the most common form of stroke - with 86 percent accuracy. The findings are reported in the March issue of Stroke. The research was supported in part by the National Human Genome Research Institute.

February 23, 2009: Landmark DNA Analysis Paper Published in Nature NanotechnologyFrom Oxford Nanopore Technologies: Oxford Nanopore Technologies ("Oxford Nanopore") announces the publication of new research in Nature Nanotechnology, demonstrating accurate and continuous identification of DNA bases using nanopores. The system can also directly identify methylated cytosine, important in the study of epigenetics. This research - funded in part by the National Human Genome Research Institute - marks significant progress towards Oxford Nanopore's goal of developing the first label-free, single molecule DNA sequencing technology.

February 19, 2009: A New PAGE in the Genetics of DiseaseFrom Rutgers University: Population Architecture using Genomics and Epidemiology (PAGE) is a four-year project promoting research into how genes and diseases are associated. PAGE investigates how specific genetic variants act to influence the risk of diabetes, obesity, heart disease, autoimmune disorders, cancer and other common diseases. It is funded by the National Human Genome Research Institute and the National Institute of Mental Health, parts of the National Institutes of Health.

February 5, 2009: Biologists Solve Mystery of Black WolvesFrom the University of California, Los Angeles: Why do nearly half of North American wolves have black coats while European wolves are overwhelmingly gray or white? The surprising answer, according to teams of biologists - including coauthor Elaine Ostrander, Ph.D. Chief of NHGRI's Cancer Genetics Branch - and molecular geneticists from Stanford University, UCLA, Sweden, Canada and Italy, is that the black coats are the result of historical matings between black dogs and wild gray wolves. The research, federally funded by the National Science Foundation, appeared Feb. 5 in the online edition of the journal Science and will be published later in the journal's print edition.

February 1, 2009: Missing Links of the TranscriptomeFrom the Broad Institute: Only 5 percent of our DNA is thought to be functional, with the 20,000 or so protein-coding genes accounting for just one-fifth of that and the rest still unknown. Researchers at the Broad Institute of MIT and Harvard and Beth Israel Deaconess Medical Center have now discovered the identity of some of those unknown players using a new technique that looks for unusual signatures in the genome. The research - published Feb. 1 in the advance online issue of the jouranal Nature - was funded in part by NHGRI.

January 29, 2009: Genes May Predict Vascular MalformationFrom the Medical College of Wisconsin: A pair of studies, led by Medical College of Wisconsin scientists at Children's Research Institute in Milwaukee, may translate into rapid molecular tests to distinguish between hemangiomas and congenital blood or lymph vessel malformations in infants. Hemangiomas are common birthmarks consisting of benign tumors of blood vessels. The studies appear in the January 29, 2009 issue of the journal Blood. Researchers from the Genome Technology Branch of the National Human Genome Research Institute were part of the studies.

January 13, 2009: Surgeon General's New Family Health History Tool Is Released, Ready for "21st Century Medicine"From the Department of Health and Human Services: The U.S. Department of Health and Human Services releases an updated and improved version of the Surgeon General's Internet-based family health history tool. The new tool makes it easier for consumers to assemble and share family health history information. It can also help practitioners make better use of health history information so they can provide more informed and personalized care for their patients.

2008

December 21, 2008: Ancient African exodus mostly involved men, geneticists findFrom Harvard Medical School: Modern humans left Africa over 60,000 years ago in a migration that many believe was responsible for nearly all of the human population that exist outside Africa today. Now, researchers from NHGRI - and others - have revealed that men and women weren't equal partners in that exodus.

December 16, 2008: In just 5 years, gene discovery to clinical trial of potential treatmentFrom American Society for Cell Biology: One of the fastest translations of a basic research discovery into a promising clinical trial for an "untreatable" and fatal disorder was discussed publicly for the first time by the key players on Dec. 14, at the American Society for Cell Biology (ASCB)'s annual meeting. The disease is progeria, or Hutchinson-Gilford Progeria Syndrome (HGPS), a rare, accelerated aging disease that afflicts children. Research on progeria has been spearheaded by former NHGRI Director Francis S. Collins.

December 15, 2008: Breast cancer genome shows evolution, instability of cancerFrom Baylor College of Medicine: A newly published genome sequence of a breast cancer cell line reveals a heavily rearranged genetic blueprint involving breaks and fusions of genes and a broken DNA repair machinery, said researchers at Baylor College of Medicine in a report that appears online in the journal Genome Research. The research is part of The Cancer Genome Atlas, a project managed by the NHGRI and the National Cancer Institute.

December 11, 2008: Public expectations for return of results from large-cohort genetic researchFrom the Genetics & Public Policy Center: Participants in a series of focus groups feel strongly that anyone taking part in a large-cohort genetic study should have access to their research results, according to a new paper in the American Journal of Bioethics. The National Human Genome Research Institute turned to the Genetics and Public Policy Center to conduct a pilot public consultation project, recognizing that dialogue with the public would be critical to the success of creating a biobank for access to individual research results.

December 8, 2008: New genes present drug targets for managing cholesterol and glucoselevelsFrom the University of Michigan: A research team that includes NHGRI scientists has identified 12 new genes that are somewhat strange bedfellows. Some link gallstones and blood cholesterol levels, others link melatonin and sleep patterns to small increases in glucose levels and larger jumps in the risk of diabetes. While these associations are surprising, all the genes are potential new drug targets and some of them could help explain conditions that have been a mystery. On Dec. 8, Nature Genetics published two papers explaining the findings in advance of the January print edition.

December 1, 2008: Powerful online tool for protein analysis provided pro bono by Stanford geneticistFrom Stanford University School of Medicine: Scientists around the world may benefit from a powerful new database, available for free online, that will help them to home in on the parts of proteins most necessary for their function. ProPhylER will enable researchers studying a protein, or the gene coding for it, to more easily figure out how it works and whether something might go wrong if the gene has a mutation. The development of the new database was funded by the National Human Genome Research Institute.

November 19, 2008:Scientists Sequence Woolly-Mammoth GenomeFrom Penn State, Eberly College of Science: Scientists at Penn State report sequencing the genome of an extinct animal: the woolly mammoth, an extinct species of elephant that was adapted to living in the cold environment of the northern hemisphere. The research was funded in part by the National Human Genome Research Institute.

November 18, 2008: The International Cancer Genome Consortium announces the launch of 8 Cancer Genome ProjectsFrom the International Cancer Genome Consortium: The International Cancer Genome Consortium (ICGC) announce the commitments of 11 funding organizations in eight countries to generate comprehensive, high-resolution analyses of genomic changes for eight forms of cancer found across the planet. The ICGC projects will complement the large U.S.-based project, The Cancer Genome Atlas, which is a joint effort of the National Cancer Institute and the National Human Genome Research Institute.

November 12, 2008: Survey Finds Wide Public Support for Nationwide Study Of Genes, Environment and LifestyleFrom the Genetics and Public Policy Center: Four in five Americans support the idea of a nationwide study to investigate the interactions of genes, environment and lifestyle, and three in five say they would be willing to take part in such a study, according to a survey released today. The research was conducted by the Genetics & Public Policy Center at Johns Hopkins University with funding from the National Human Genome Research Institute of the National Institutes of Health.

November 5, 2008: Washington University scientists first to sequence genome of cancer patientFrom the Washington University in St. Louis School of Medicine: For the first time, scientists have decoded the complete DNA of a cancer patient and traced her disease - acute myelogenous leukemia - to its genetic roots. A large research team at the Genome Sequencing Center and the Siteman Cancer Center at Washington University School of Medicine in St. Louis - funded in part by the National Human Genome Research Institute - sequenced the genome of the patient - a woman in her 50s who ultimately died of her disease - and the genome of her leukemia cells, to identify genetic changes unique to her cancer. The study is reported in the Nov. 6 issue of the journal Nature.

September 29, 2008: NIH Announces Funding for New Epigenomics InitiativeFrom the National Institutes of Health: The National Institutes of Health (NIH) announces funding for the NIH Roadmap Epigenomics Program. The overall hypothesis of the program is that the origins of health and susceptibility to disease are, in part, the result of epigenetic regulation of the genetic blueprint. Researchers believe that understanding how and when epigenetic processes control genes during different stages of development and throughout life will lead to more effective ways to prevent and treat disease. The new program will use knowledge gained from the ongoing ENCyclopedia Of DNA Elements (ENCODE) project led by the National Human Genome Research Institute - an effort to catalog the structural and functional elements in the human genome, which includes the study of specific signatures of change in histones and the correlation of these signatures with different genome functions.

September 23, 2008: Methylation Levels Key to Glioblastoma SurvivalFrom the American Association for Cancer Research: A new study analyzing gene expression among patients with glioblastomas finds that not all of the common, deadly brain tumors appear the same upon closer examination. The research, directed by scientists at The University of Texas M. D. Anderson Cancer Center, utilized data from The Cancer Genome Atlas, a project organized by the National Cancer Institute and the National Human Genome Research Institute.

September 23, 2008:Worm Genome Offers Clues to Evolution of ParasitismFrom the Washington University School of Medicine in St. Louis: The genome of a humble worm that dines on the microbial organisms covering the carcasses of dead beetles may provide clues to the evolution of parasitic worms, including those that infect humans, say scientists at Washington University School of Medicine in St. Louis and the Max-Planck Institute for Developmental Biology in Germany.

September 9, 2008: Genetic Region Linked to a Five Times Higher Lung Cancer RiskFrom the Washington University School of Medicine in St. Louis: A narrow region on chromosome 15 contains genetic variations strongly associated with familial lung cancer, says a study conducted by scientists at Washington University School of Medicine in St. Louis and other institutions in the United States and the United Kingdom, and funded in part by the National Human Genome Research Institute.

September 4, 2008: Thumbs Up - A Tiny Ancestral Remnant Lends Developmental Edge to HumansFrom the DOE Joint Genome Institute: Subtle genetic changes that confer an evolutionary advantage upon a species, such as the dexterity characteristic of the human hand, while difficult to detect and even harder to reproduce in a model system, have nevertheless generated keen interest amongst evolutionary biologists.

August 11, 2008: UA Receives $1.4 Million NIH Training Grant to Study Genes, the Environment, and Human HealthFrom the University of Arizona: The National Institutes of Health (NIH) has awarded The University of Arizona (UA) a five-year, $1.4 million grant to create a multidisciplinary "training ground" that will give student researchers the expertise to better understand how genes and the environment interact to affect human health - skills that could one day improve our ability to treat and prevent diseases such as diabetes and asthma.

July 23, 2008: Victor A. McKusick, M.D., "Father of Medical Genetics," 1921-2008From Johns Hopkins Medicine: Victor Almon McKusick, M.D., University Professor of Medical Genetics at the Johns Hopkins University School of Medicine, one of the two distinguished Johns Hopkins geneticists for whom the McKusick-Nathans Institute of Genetic Medicine was named, and a towering international figure in genetics research, diagnosis and treatment, died Tuesday, July 22 at home. He was 86.

April 21, 2008: DNA Day Ambassadors Reach Out to North Carolina High SchoolsFrom the University of North Carolina: On April 25, young scientists from the University of North Carolina at Chapel Hill, more than 200 graduate students and postdoctoral fellows in medicine and science from several universities, will visit almost 180 schools as part of DNA Day, an annual commemoration of two key scientific breakthroughs - the discovery of DNA's double helix in 1953, and the completion of the Human Genome Project in 2003.

April 3, 2008: NIDA Researchers Identify Genetic Variant Linked to Nicotine Addiction and Lung CancerFrom the National Institute on Drug Abuse: In a study published in the April 3 issue of the journal Nature, scientists identify a genetic variant that not only makes smokers more susceptible to nicotine addiction but also increases their risk of developing two smoking-related diseases, lung cancer and peripheral arterial disease. The research was supported by the National Institute on Drug Abuse (NIDA), part of the National Institutes of Health (NIH). The same variant was identified as one that increased risk for lung cancer in two other articles appearing in the April 3rd, 2008, issues of Nature and Nature Genetics, partially funded by two other NIH institutes - the National Cancer Institute and the National Human Genome Research Institute.

March 25, 2008: Scientists Launch First Comprehensive Database of Human Oral MicrobiomeFrom the National Institute of Dental and Craniofacial Research: Scientists know more today than ever before about the microbes that inhabit our mouths. They know so much, in fact, that gathering all of the relevant bits of information into one place when designing experiments can be a labor-intensive job in itself.

March 24, 2008: First Beetle Genome SequencedFrom Baylor College of Medicine: Sequencing the genome of the red flour beetle, also known as Tribolium castaneum, could prove of double benefit - both in understanding how organisms develop and in fighting the insect pest, said a researcher at Baylor College of Medicine in Houston who was part of the international consortium that published the genetic sequence in the current issue of the journal Nature.

February 25, 2008: Center to Hold Town Halls on Genes, Environment, and Your Health in Five U.S. CitiesFrom the Genetics and Public Policy Center: The Genetics and Public Policy Center will conduct a series of public town hall meetings to gather feedback from the public on their views related to a proposed large cohort study on the role of genes and environment in health. The town halls are part of a public consultation effort to inform the National Institutes of Health and other federal health agencies' discussions as they decide whether and how such a study might go forward.

January 25, 2008: Search for the 'On' Switches May Reveal Genetic Role in Development and DiseaseFrom Duke University Medical Center News: A new resource that identifies regions of the human genome that regulate gene expression may help scientists learn about and develop treatments for a number of human diseases, according to researchers at Duke's Institute for Genome Sciences & Policy (IGSP).

2007

December 12, 2007: Cavities - Nature Or Nurture? $1 Million Grant To Pitt Dental School To Study CausesFrom Medical News Today: To identify the genetic and environmental risk factors that cause dental caries, the National Institutes of Health has awarded a $1 million grant to the University of Pittsburgh School of Dental Medicine researcher Mary L. Marazita, Ph.D. to study the interaction between genes and environmental factors that lead to tooth decay. The genome-wide association studies will be led by the National Human Genome Research Institute.

November 16, 2007: RTI International Leads Effort to Create Standard Measures for Population Genomics ResearchFrom Research Triangle, N.C.: As part of an effort to maximize the benefits of research exploring the relationships between genetics, environment, health and disease, RTI International scientists will work with experts in a variety of health fields to develop a set of standard measures to be used in future genetics research. The project, PhenX (pronounced "phoenix"), will develop consensus measures for phenotypes and exposures.

October 31, 2007: Domestic Cat Genome PublishedFrom Cold Spring Harbor Laboratory: A report that appears in the scientific journal Genome Research details the first assembly, annotation and comparative analysis of the domestic cat genome (Felis catus).

October 30, 2007: President Bush Announces Recipients of Presidential Medal of FreedomFrom The White House: President George W. Bush has announced recipients of the Presidential Medal of Freedom, the nation's highest civil award. NHGRI Director Francis S. Collins, M.D., Ph.D. will receive the award for revolutionizing genetic research at a White House ceremony on Monday, November 5, 2007. Dr. Elias Zerhouni, M.D., Director of the National Institutes of Health, issued a statement on the awarding of the Medal of Freedom.

October 16, 2007: Combining new gene chips with fast sequencing technology brings universal sequence a step closerFrom Baylor College of Medicine: A new technique that combines gene chip technology with the latest generation of gene sequencing machines to allow fast and accurate sequencing of selected parts of the genome has been developed by researchers from the Human Genome Sequencing Center at Baylor College of Medicine, Houston and NimbleGen Systems, Inc. in Wisconsin. The research, published in the October issue of Nature Methods, was funded by the National Human Genome Research Institute and the National Cancer Institute.

September 25, 2007: Pathway to Cell Death Redefined in Landmark StudyFrom the University of Pittsburgh Medical Center: University of Pittsburgh School of Medicine findings hold promise in the fight against cancer, stroke, heart disease and other life-threatening illnesses. The study was funded in part by the National Human Genome Research Institute.

September 5, 2007: Ultraconserved Elements in the Genome: Are They Indispensable? From the Lawrence Berkeley National Laboratory: Scientists in the Genomics Division of the Department of Energy's Lawrence Berkeley National Laboratory and DOE's Joint Genome Institute test highly conserved sequences in mice by engineering four different "knockout" mice, each lacking one selected ultraconserved element and get surprising results.

January 30, 2007: NIH funds next generation of DNA sequencing projects at ASUFrom Arizona State University: With a grant award from the National Human Genome Research Institute (NHGRI), scientists at the Biodesign Institute at Arizona State University are expanding efforts to dramatically lower the cost of DNA sequencing.

January 16, 2007: DNA Gets Its Groove OnFrom the Washington Performing Arts Society: The Liz Lerman Dance Exchange investigates the startling realities of how knowledge of the genome will change the way we think about aging, perfection, ancestry, and evolution in its new work, Ferocious Beauty: Genome.

2006

December 14, 2006: Regulating the Nuclear Architecture of the Cell From the Lawrence Berkeley National Laboratory: NHGRI sponsored researchers in the Life Sciences Division of the Department of Energy's Lawrence Berkeley National Laboratory, discover two pathways that regulate the organization of the nucleolus and other features of nuclear architecture, maintaining genome stability in the fruit fly Drosophila melanogaster.

December 13, 2006: NIH Launches dbGaP, a Database of Whole Genome Association Studies From the National Library of Medicine: The National Library of Medicine (NLM), part of the National Institutes of Health (NIH), announces the introduction of dbGaP, a new database designed to archive and distribute data from genome wide association (GWA) studies. GWA studies explore the association between specific genes (genotype information) and observable traits, such as blood pressure and weight, or the presence or absence of a disease or condition (phenotype information).

November 9, 2006: Decoded Sea Urchin Genome Shows Surprising Relationship to ManFrom the Baylor College of Medicine: The Sea Urchin Genome Sequencing Project Consortium, led by the Human Genome Sequencing Center at Baylor College of Medicine in Houston, announces the decoding and analysis of the genome sequence of the sea urchin, Strongylocentrotus purpuratus.

November 1, 2006: Fungal Genome Exposes a "Corny" PlotFrom the Broad Institute: The efforts of an international research team to decode and analyze the U. maydis genome cast new light on the machinery that enables the fungus to do its dirty work. The paper describing this work appears in the November 2 issue of Nature.

October 20, 2006: Genetic and Genomic Nursing Competencies Endorsed by Nursing OrganizationsFrom the American Nurses Association: The American Nurses Association, the only full-service professional organization representing the nation's 2.9 million registered nurses, the National Human Genome Research Institute, the National Cancer Institute, and the Office of Rare Diseases of the National Institutes of Health, have partnered to host a consensus panel of key experts and representatives of organizations to delineate essential genetic and genomic competencies for all registered nurses, regardless of academic preparation, practice setting, or specialty.

October 18, 2006: NIEHS Allocates $74 Million to Study Environmental Causes of Disease From the National Institute of Environmental Health Sciences (NIEHS) : As part of the new Exposure Biology Program, the National Institute of Environmental Health Sciences, a component of the National Institutes of Health, announces $74 million in grant opportunities for the development of new technologies that will improve the measurement of environmental exposures that contribute to human disease.

October 11, 2006: NIH Grants to Help Grow Zebrafish Database From the University of Oregon: Two federal grants totaling more than $15 million from the National Human Genome Research Institute of the National Institutes of Health (NIH) have advanced the University of Oregon's niche as the world's central clearinghouse for all research data related to zebrafish.

October 2, 2006: NIH/ORWH Announces New Fellowships in Women's Health From the National Institutes of Health: The Office of Research on Women's Health (ORWH) and the National Institutes of Health (NIH) Intramural Program for Research on Women's Health (IPRWH) announce the selection of the first recipients of the NIH Women's Health Fellowships in Intramural Women's Health Research.

September 29, 2006: BWH Extends the U. S. Surgeon General's "My Family Health Portrait" to Chinese-Speaking Employees and Individuals WorldwideFrom the Brigham and Women's Hospital: Brigham and Women's Hospital (BWH) has launched a Chinese version of the U.S. Surgeon General's "My Family Health Portrait" on its Web site to assist its diverse workforce of 12,000 and support individuals worldwide who are interested in organizing their family's health history. The BWH Family History Project, funded by the National Human Genome Research Institute's Education and Community Involvement Branch, now has its tool publicly available on the hospital's Web site in Chinese, Polish, Portuguese, French, Spanish and English.

August 30, 2006: NIH Seeks Input on Proposed Repository for Genetic Information From the National Institutes of Health: The National Institutes of Health (NIH) seeks public input on a proposed new policy designed to facilitate the research community's access to data resulting from NIH-funded, genome-wide association studies. NIH has published a Request for Information in the Federal Register today and will be accepting public comments until October 31.

August 14, 2006: Advanced Bovine Genome Assembly, Genetic Resources Released: Cow Genome Project Heads for Home From Baylor College of Medicine: Researchers from the Bovine Genome Sequencing Project announce the release of a comprehensive set of genome resources into freely available public databases. These new assets for bovine researchers include the most complete and accurate genome sequence to date, an upgraded genetic map, and a new set of two million DNA base differences for use as DNA sequence polymorphisms.

August 14, 2006: International Bovine Genome Sequencing Project Releases New Genetic Resources From the U.S. Department of Agriculture: Researchers from the Bovine Genome Sequencing Project are nearing completion on sequencing the genome of the cow and have released on free public databases bovine genetic information, including the most current, complete and accurate genome sequence and an upgraded genetic map.

August 9, 2006: Unique Huntington's Study Moves Forward From the University of Rochester Medical Center: Doctors have completed the first step of a unique medical research study, evaluating 1,001 individuals at risk of developing Huntington's disease who do not know - nor do they want to know - whether they carry the genetic defect that causes the condition. Ira Shoulson, M.D., and colleagues from the Huntington Study Group report their progress on the study known as PHAROS, or Prospective Huntington At Risk Observational Study, in the July issue of the Archives of Neurology.

July 20, 2006: Horse added to Broad's Genome Stable From the Broad Institute: A research team led by scientists at the Broad Institute is working to create a high-quality genome sequence of the domestic horse, Equus caballus, together with a compendium of genetic differences among seven different horse breeds.

June 27, 2006: Protein Tied to Usher Syndrome May Be Hearing's Missing Link? From the National Institutes of Health: A protein associated with a disorder that causes deafness and blindness in people may be a key to unraveling one of the foremost mysteries of how we hear, says a study in the June 28 issue of the Journal of Neuroscience.

May 17, 2006: Genome Doesn't Start with 'G'From the Wellcome Trust Sanger Institute: The Wellcome Trust Sanger Institute and colleagues in the UK and USA publish the longest and final chapter in what has been called The Book of Life - the text and study of our human genetic material. Published in Nature, the report of the sequence of human chromosome 1 is the final chromosome analysis from the Human Genome Project.

May 1, 2006: ASCO Recognizes Oncology Leaders for Outstanding Achievements From the American Society of Clinical Oncology (ASCO): The American Society of Clinical Oncology (ASCO) announces the recipients of its 2006 Special Awards, which recognize individuals who have made significant contributions to both ASCO and the practice of clinical oncology, including NHGRI Director Francis Collins with a Science of Oncology Award.

April 27, 2006: Chromosome 17: An Evolutionary Black Sheep?From The Broad Institute: In the April 20 issue of Nature, an international scientific team led by Broad Institute researchers reports the full sequence and analysis of chromosome 17, revealing an unusual history.

April 13, 2006: DNA Sequencing Contributes to Sequence of Honors for UHFrom the University of Houston: NHGRI-funded researcher Dr. Xiaolian Gao, a Univeristy of Houston biology and biochemistry professor and adjunct professor in chemistry and biomedical engineering, is honored by the Association for Women in Computing with a 2006 "Top Houston Women in Technology" award.

April 10, 2006: Leader of Human Genome Project Lectures April 18 at MSUFrom Montana State University: Jane Peterson, a Montana native and leading figure with the National Human Genome Research Institute at the National Institutes of Health, will lecture on mapping the genome and what it means to the future.

March 23, 2006: Chromosome 11 Rolls High Number From The Broad Institute: Another chapter has been added to Chromosome 11's crowded history with the completion and analysis of its DNA sequence, reported in the March 23 issue of Nature by an international scientific team.

March 15, 2006: Chromosome 12 Annotated Sequence Complete From Baylor College of Medicine: Researchers from Baylor College of Medicine's (BCM) Human Genome Sequencing Center (HGSC) put the "final period" to the genetic "sentence" of chromosome 12 when they publish its annotated sequence as part of a report in the current issue of the journal Nature.

February 16, 2006: Progeria Progress: Studies Show How Mutant Protein Hurts HeartsFrom Brown University: Two new research studies on progeria, published in the Proceedings of the National Academy of Sciences, detail the damage a mutant protein does to blood vessel cells of humans and mice. The discoveries offer increased hope for a cure for progeria, a genetic condition fatal in children, but may also provide key insight into the cause of adult heart disease.

January 10, 2006: Professor Examines Licensing of DNA Patents From Georgetown University: Georgetown University professor LeRoy Walters and six colleagues show that the licensing of DNA patents at U.S. academic institutions has not led to the decline in academic cooperation and technology transfer that many observers have feared.